(used for variant description)
(last modified February 6, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_000289.5 in the PFKM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering PFKM transcript NM_000289.5.
(upstream sequence)
g.18362
aggag c.-181
. . . . . . g.18422
gaggcggagccttcttgtcagcatctgttagtggaggttgggaagcctctcctccttccc c.-121
. . . . . . g.18482
cctccctctttgcctccacctggctcctccccatgttcgtccatcacccctccccccttt c.-61
. . . . . . | 02 g.21902
cccaaggacaatctgcaagaaagcagcggcggaggagagctaagactaaaag | agtggatc c.-1
. . . . . . g.21962
ATGACCCATGAAGAGCACCATGCAGCCAAAACCCTGGGGATTGGCAAAGCCATTGCTGTC c.60
M T H E E H H A A K T L G I G K A I A V p.20
. . | 03 . . . . g.29525
TTAACCTCTGGTGGAGATGCCCAAG | GTATGAATGCTGCTGTCAGGGCTGTGGTTCGAGTT c.120
L T S G G D A Q G | M N A A V R A V V R V p.40
. . . | 04 . . g.30464
GGTATCTTCACCGGTGCCCGTGTCTTCTTTGTCCATGAG | GGTTATCAAGGCCTGGTGGAT c.180
G I F T G A R V F F V H E | G Y Q G L V D p.60
. . . . . | 05. g.31998
GGTGGAGATCACATCAAGGAAGCCACCTGGGAGAGCGTTTCGATGATGCTTCAGCTG | GGA c.240
G G D H I K E A T W E S V S M M L Q L | G p.80
. . . . . . g.32058
GGCACGGTGATTGGAAGTGCCCGGTGCAAGGACTTTCGGGAACGAGAAGGACGACTCCGA c.300
G T V I G S A R C K D F R E R E G R L R p.100
. . . . . . g.32118
GCTGCCTACAACCTGGTGAAGCGTGGGATCACCAATCTCTGTGTCATTGGGGGTGATGGC c.360
A A Y N L V K R G I T N L C V I G G D G p.120
. . . . . . g.32178
AGCCTCACTGGGGCTGACACCTTCCGTTCTGAGTGGAGTGACTTGTTGAGTGACCTCCAG c.420
S L T G A D T F R S E W S D L L S D L Q p.140
| 06. . . . . . g.32495
AAAGCAG | GTAAGATCACAGATGAGGAGGCTACGAAGTCCAGCTACCTGAACATTGTGGGC c.480
K A G | K I T D E E A T K S S Y L N I V G p.160
. . . . . . g.32555
CTGGTTGGGTCAATTGACAATGACTTCTGTGGCACCGATATGACCATTGGCACTGACTCT c.540
L V G S I D N D F C G T D M T I G T D S p.180
. . . . . | 07 . g.33366
GCCCTGCATCGGATCATGGAAATTGTAGATGCCATCACTACCACTGCCCAGAG | CCACCAG c.600
A L H R I M E I V D A I T T T A Q S | H Q p.200
. . . | 08 . . g.33870
AGGACATTTGTGTTAGAAGTAATGGGCCGCCACTGTGG | ATACCTGGCCCTTGTCACCTCT c.660
R T F V L E V M G R H C G | Y L A L V T S p.220
. . . . . . g.33930
CTGTCCTGTGGGGCCGACTGGGTTTTTATTCCTGAATGTCCACCAGATGACGACTGGGAG c.720
L S C G A D W V F I P E C P P D D D W E p.240
. . | 09. . . . g.34103
GAACACCTTTGTCGCCGACTCAGCGAG | ACAAGGACCCGTGGTTCTCGTCTCAACATCATC c.780
E H L C R R L S E | T R T R G S R L N I I p.260
. . . . . . g.34163
ATTGTGGCTGAGGGTGCAATTGACAAGAATGGAAAACCAATCACCTCAGAAGACATCAAG c.840
I V A E G A I D K N G K P I T S E D I K p.280
| 10 . . . . . . g.34475
AAT | CTGGTGGTTAAGCGTCTGGGATATGACACCCGGGTTACTGTCTTGGGGCATGTGCAG c.900
N | L V V K R L G Y D T R V T V L G H V Q p.300
. . . | 11 . . . g.36872
AGGGGTGGGACGCCATCAGCCTTTGACAGAATTCTG | GGCAGCAGGATGGGTGTGGAAGCA c.960
R G G T P S A F D R I L | G S R M G V E A p.320
. . . . . . g.36932
GTGATGGCACTTTTGGAGGGGACCCCAGATACCCCAGCCTGTGTAGTGAGCCTCTCTGGT c.1020
V M A L L E G T P D T P A C V V S L S G p.340
. . . . | 12 . . g.38430
AACCAGGCTGTGCGCCTGCCCCTCATGGAATGTGTCCAGGTG | ACCAAAGATGTGACCAAG c.1080
N Q A V R L P L M E C V Q V | T K D V T K p.360
. . . . | 13. . g.38989
GCCATGGATGAGAAGAAATTTGACGAAGCCCTGAAGCTGAGAGGCCG | GAGCTTCATGAAC c.1140
A M D E K K F D E A L K L R G R | S F M N p.380
. . . . . | 14 . g.39858
AACTGGGAGGTGTACAAGCTTCTAGCTCATGTCAGACCCCCGGTATCTAAG | AGTGGTTCG c.1200
N W E V Y K L L A H V R P P V S K | S G S p.400
. . . . . . g.39918
CACACAGTGGCTGTGATGAACGTGGGGGCTCCGGCTGCAGGCATGAATGCTGCTGTTCGC c.1260
H T V A V M N V G A P A A G M N A A V R p.420
. . . . . . g.39978
TCCACTGTGAGGATTGGCCTTATCCAGGGCAACCGAGTGCTCGTTGTCCATGATGGTTTC c.1320
S T V R I G L I Q G N R V L V V H D G F p.440
. . | 15 . . . . g.40477
GAGGGCCTGGCCAAGGGGCAG | ATAGAGGAAGCTGGCTGGAGCTATGTTGGGGGCTGGACT c.1380
E G L A K G Q | I E E A G W S Y V G G W T p.460
. . . | 16 . . . g.40895
GGCCAAGGTGGCTCTAAACTTGGGACTAAAAG | GACTCTACCCAAGAAGAGCTTTGAACAG c.1440
G Q G G S K L G T K R | T L P K K S F E Q p.480
. . . . . . g.40955
ATCAGTGCCAATATAACTAAGTTTAACATTCAGGGCCTTGTCATCATTGGGGGCTTTGAG c.1500
I S A N I T K F N I Q G L V I I G G F E p.500
| 17 . . . . . . g.41101
| GCTTACACAGGGGGCCTGGAACTGATGGAGGGCAGGAAGCAGTTTGATGAGCTCTGCATC c.1560
| A Y T G G L E L M E G R K Q F D E L C I p.520
. . . . . . g.41161
CCATTTGTGGTCATTCCTGCTACAGTCTCCAACAATGTCCCTGGCTCAGACTTCAGCGTT c.1620
P F V V I P A T V S N N V P G S D F S V p.540
. . . | 18 . . . g.41936
GGGGCTGACACAGCACTCAATACTATCTGCACA | ACCTGTGACCGCATCAAGCAGTCAGCA c.1680
G A D T A L N T I C T | T C D R I K Q S A p.560
. . . . . . g.41996
GCTGGCACCAAGCGTCGGGTGTTTATCATTGAGACTATGGGTGGCTACTGTGGCTACCTG c.1740
A G T K R R V F I I E T M G G Y C G Y L p.580
. . . . . . g.42056
GCTACCATGGCTGGACTGGCAGCTGGGGCCGATGCTGCCTACATTTTTGAGGAGCCCTTC c.1800
A T M A G L A A G A D A A Y I F E E P F p.600
. | 19 . . . . g.42922
ACCATTCGAGACCTGCAG | GCAAATGTTGAACATCTGGTGCAAAAGATGAAAACAACTGTG c.1860
T I R D L Q | A N V E H L V Q K M K T T V p.620
. . | 20 . . . . g.43213
AAAAGGGGCTTGGTGTTAAG | GAATGAAAAGTGCAATGAGAACTATACCACTGACTTCATT c.1920
K R G L V L R | N E K C N E N Y T T D F I p.640
. . . . . . g.43273
TTCAACCTGTACTCTGAGGAGGGGAAGGGCATCTTCGACAGCAGGAAGAATGTGCTTGGT c.1980
F N L Y S E E G K G I F D S R K N V L G p.660
. | 21 . . . . . g.44206
CACATGCAGCAG | GGTGGGAGCCCAACCCCATTTGATAGGAATTTTGCCACTAAGATGGGC c.2040
H M Q Q | G G S P T P F D R N F A T K M G p.680
. . . . . | 22 . g.44345
GCCAAGGCTATGAACTGGATGTCTGGGAAAATCAAAGAGAGTTACCGTAATG | GGCGGATC c.2100
A K A M N W M S G K I K E S Y R N G | R I p.700
. . . . . . g.44405
TTTGCCAATACTCCAGATTCGGGCTGTGTTCTGGGGATGCGTAAGAGGGCTCTGGTCTTC c.2160
F A N T P D S G C V L G M R K R A L V F p.720
. . . | 23 . . g.44713
CAACCAGTGGCTGAGCTGAAGGACCAGACAGATTTTGA | GCATCGAATCCCCAAGGAACAG c.2220
Q P V A E L K D Q T D F E | H R I P K E Q p.740
. . . . . . g.44773
TGGTGGCTGAAACTGAGGCCCATCCTCAAAATCCTAGCCAAGTACGAGATTGACTTGGAC c.2280
W W L K L R P I L K I L A K Y E I D L D p.760
. . . . . . g.44833
ACTTCAGACCATGCCCACCTGGAGCACATCACCCGGAAGCGGTCCGGGGAAGCTGCCGTC c.2340
T S D H A H L E H I T R K R S G E A A V p.780
g.44836
TAA c.2343
X p.780
. . . . . . g.44896
acctctctggagtgaggggaatagattacctgatcatggtcagctcacaccctaataagt c.*60
. . . . . . g.44956
ccacatcttctcagtgttttagctgtttttttcattaggtttccttttattctgtacctt c.*120
. . . . . . g.45016
gcagccatgaccagttctggccaggagctggaggagcaggcagtgggtgggagctccttt c.*180
. . . . . . g.45076
taggtagaatttaacatgacttctgccccagctttatctgtcacacaaggctgggcacct c.*240
. . . . . . g.45136
ctagtgctactgctagatatcacttactcagttagaattttcctaaaaataagctttatt c.*300
. . . . . . g.45196
tatttctttgtgataacaaagagtcttggttcctctactacttttactacagtgacaaat c.*360
. . . . . . g.45256
tgtaactacactaataaatgccaactggtcactgtgcttttgcttctcctgttatcatct c.*420
. . . . . . g.45316
tcctaagtggaatgtaatactgtcagccccatgtatcagacacttgtctgatgaagcagt c.*480
. . . . . . g.45376
aaagacgttaagggtatcacagggggtggaggaagggattatctctagtacactacttgc c.*540
. . . . . . g.45436
tggctgtctgaaaaattgtcactgccaaactctaaaaacagttctaaatagtgactgaga c.*600
. . . . . . g.45496
aggtttgttgctggagtcagggaataaggcagccaaatactctttgcacagttctttagt c.*660
. . . g.45532
gggaagagaaattaacaataaatatcaagcactgtg c.*696
(downstream sequence)
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