(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_153609.2 in the TMPRSS6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012856.2, covering TMPRSS6 transcript NM_153609.2.
(upstream sequence)
. . . . . g.5054
cttgagccagacccagtccagctctggtgcctgccctctggtgcgagctgacct c.-61
. . . . . . g.5114
gagatgcacttccctcctctgtgagctgtctcggcacccacttgcagtcactgccgcctg c.-1
. . | 02 . . . . g.5269
ATGTTGTTACTCTTCCACTCCAAAAG | GATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGC c.60
M L L L F H S K R | M P V A E A P Q V A G p.20
. . . . . . g.5329
GGGCAGGGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCCTGT c.120
G Q G D G G D G E E A E P E G M F K A C p.40
. . . . . . g.5389
GAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGCCTGGTGCCCCTGTTTGTGCTGCTG c.180
E D S K R K A R G Y L R L V P L F V L L p.60
. . . . | 03 . g.10115
GCCCTGCTCGTGCTGGCTTCGGCGGGGGTGCTACTCTGGTATTTCCTAG | GGTACAAGGCG c.240
A L L V L A S A G V L L W Y F L G | Y K A p.80
. . . . . . g.10175
GAGGTGATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTCTCC c.300
E V M V S Q V Y S G S L R V L N R H F S p.100
. . . . . . g.10235
CAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGCAGTGAAACCGCCAAAGCCCAGAAG c.360
Q D L T R R E S S A F R S E T A K A Q K p.120
| 04 . . . . . . g.11995
ATG | CTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTC c.420
M | L K E L I T S T R L G T Y Y N S S S V p.140
. | 05 . . . . . g.12612
TATTCCTTTGG | GGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAG c.480
Y S F G | E G P L T C F F W F I L Q I P E p.160
. . . . . . g.12672
CACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTG c.540
H R R L M L S P E V V Q A L L V E E L L p.180
. . . . . . g.12732
TCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAG c.600
S T V N S S A A V P Y R A E Y E V D P E p.200
. | 06 . . . . | 07 g.18873
GGCCTAGTGATCCTGG | AAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGG | GT c.660
G L V I L E | A S V K D I A A L N S T L G | p.220
. . . . . . g.18933
TGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTCCTCCGGCTGAAGGGGCCTGACCAC c.720
C Y R Y S Y V G Q G Q V L R L K G P D H p.240
. . . . . . g.18993
CTGGCCTCCAGCTGCCTGTGGCACCTGCAGGGCCCCAAGGACCTCATGCTCAAACTCCGG c.780
L A S S C L W H L Q G P K D L M L K L R p.260
. . . . . . g.19053
CTGGAGTGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGGCCC c.840
L E W T L A E C R D R L A M Y D V A G P p.280
. . | 08 . . . . g.22271
CTGGAGAAGAGGCTCATCACCTC | GGTGTACGGCTGCAGCCGCCAGGAGCCCGTGGTGGAG c.900
L E K R L I T S | V Y G C S R Q E P V V E p.300
. . . . . . g.22331
GTTCTGGCGTCGGGGGCCATCATGGCGGTCGTCTGGAAGAAGGGCCTGCACAGCTACTAC c.960
V L A S G A I M A V V W K K G L H S Y Y p.320
. . . . | 09 . . g.23834
GACCCCTTCGTGCTCTCCGTGCAGCCGGTGGTCTTCCAGG | CCTGTGAAGTGAACCTGACG c.1020
D P F V L S V Q P V V F Q A | C E V N L T p.340
. . . . . . g.23894
CTGGACAACAGGCTCGACTCCCAGGGCGTCCTCAGCACCCCGTACTTCCCCAGCTACTAC c.1080
L D N R L D S Q G V L S T P Y F P S Y Y p.360
. . . | 10 . . . g.24276
TCGCCCCAAACCCACTGCTCCTGGCACCTCACG | GTGCCCTCTCTGGACTACGGCTTGGCC c.1140
S P Q T H C S W H L T | V P S L D Y G L A p.380
. . . . . . g.24336
CTCTGGTTTGATGCCTATGCACTGAGGAGGCAGAAGTATGATTTGCCGTGCACCCAGGGC c.1200
L W F D A Y A L R R Q K Y D L P C T Q G p.400
. . | 11 . . . . g.33410
CAGTGGACGATCCAGAACAGGAG | GCTGTGTGGCTTGCGCATCCTGCAGCCCTACGCCGAG c.1260
Q W T I Q N R R | L C G L R I L Q P Y A E p.420
. . . . . . g.33470
AGGATCCCCGTGGTGGCCACGGCCGGGATCACCATCAACTTCACCTCCCAGATCTCCCTC c.1320
R I P V V A T A G I T I N F T S Q I S L p.440
. . . . | 12 . g.33956
ACCGGGCCCGGTGTGCGGGTGCACTATGGCTTGTACAACCAGTCGGACC | CCTGCCCTGGA c.1380
T G P G V R V H Y G L Y N Q S D P | C P G p.460
. . . . . . g.34016
GAGTTCCTCTGTTCTGTGAATGGACTCTGTGTCCCTGCCTGTGATGGGGTCAAGGACTGC c.1440
E F L C S V N G L C V P A C D G V K D C p.480
. . | 13 . . . g.35040
CCCAACGGCCTGGATGAGAGAAACTGCG | TTTGCAGAGCCACATTCCAGTGCAAAGAGGAC c.1500
P N G L D E R N C V | C R A T F Q C K E D p.500
. . . . . . g.35100
AGCACATGCATCTCACTGCCCAAGGTCTGTGATGGGCAGCCTGATTGTCTCAACGGCAGC c.1560
S T C I S L P K V C D G Q P D C L N G S p.520
. . | 14 . . . . g.37659
GACGAAGAGCAGTGCCAGGAAG | GGGTGCCATGTGGGACATTCACCTTCCAGTGTGAGGAC c.1620
D E E Q C Q E G | V P C G T F T F Q C E D p.540
. . . . . . g.37719
CGGAGCTGCGTGAAGAAGCCCAACCCGCAGTGTGATGGGCGGCCCGACTGCAGGGACGGC c.1680
R S C V K K P N P Q C D G R P D C R D G p.560
. | 15 . . . . g.38042
TCGGATGAGGAGCACTGTG | ACTGTGGCCTCCAGGGCCCCTCCAGCCGCATTGTTGGTGGA c.1740
S D E E H C D | C G L Q G P S S R I V G G p.580
. . . . . . g.38102
GCTGTGTCCTCCGAGGGTGAGTGGCCATGGCAGGCCAGCCTCCAGGTTCGGGGTCGACAC c.1800
A V S S E G E W P W Q A S L Q V R G R H p.600
. . . . . . g.38162
ATCTGTGGGGGGGCCCTCATCGCTGACCGCTGGGTGATAACAGCTGCCCACTGCTTCCAG c.1860
I C G G A L I A D R W V I T A A H C F Q p.620
| 16 . . . . . g.39361
GAGGACAG | CATGGCCTCCACGGTGCTGTGGACCGTGTTCCTGGGCAAGGTGTGGCAGAAC c.1920
E D S | M A S T V L W T V F L G K V W Q N p.640
. . . . . . g.39421
TCGCGCTGGCCTGGAGAGGTGTCCTTCAAGGTGAGCCGCCTGCTCCTGCACCCGTACCAC c.1980
S R W P G E V S F K V S R L L L H P Y H p.660
. . . . . . g.39481
GAAGAGGACAGCCATGACTACGACGTGGCGCTGCTGCAGCTCGACCACCCGGTGGTGCGC c.2040
E E D S H D Y D V A L L Q L D H P V V R p.680
. . . . . . g.39541
TCGGCCGCCGTGCGCCCCGTCTGCCTGCCCGCGCGCTCCCACTTCTTCGAGCCCGGCCTG c.2100
S A A V R P V C L P A R S H F F E P G L p.700
. . . . | 17 . . g.41711
CACTGCTGGATTACGGGCTGGGGCGCCTTGCGCGAGGGCG | GCCCCATCAGCAACGCTCTG c.2160
H C W I T G W G A L R E G G | P I S N A L p.720
. . . . . . g.41771
CAGAAAGTGGATGTGCAGTTGATCCCACAGGACCTGTGCAGCGAGGTCTATCGCTACCAG c.2220
Q K V D V Q L I P Q D L C S E V Y R Y Q p.740
. . . . . | 18. g.42418
GTGACGCCACGCATGCTGTGTGCCGGCTACCGCAAGGGCAAGAAGGATGCCTGTCAG | GGT c.2280
V T P R M L C A G Y R K G K K D A C Q | G p.760
. . . . . . g.42478
GACTCAGGTGGTCCGCTGGTGTGCAAGGCACTCAGTGGCCGCTGGTTCCTGGCGGGGCTG c.2340
D S G G P L V C K A L S G R W F L A G L p.780
. . . . . . g.42538
GTCAGCTGGGGCCTGGGCTGTGGCCGGCCTAACTACTTCGGCGTCTACACCCGCATCACA c.2400
V S W G L G C G R P N Y F G V Y T R I T p.800
. . . g.42574
GGTGTGATCAGCTGGATCCAGCAAGTGGTGACCTGA c.2436
G V I S W I Q Q V V T X p.811
. . . . . . g.42634
ggaactgcccccctgcaaagcagggcccacctcctggactcagagagcccagggcaactg c.*60
. . . . . . g.42694
ccaagcagggggacaagtattctggcggggggtgggggagagagcaggccctgtggtggc c.*120
. . . . . . g.42754
aggaggtggcatcttgtctcgtccctgatgtctgctccagtgatggcaggaggatggaga c.*180
. . . . . . g.42814
agtgccagcagctgggggtcaagacgtcccctgaggacccaggcccacacccagcccttc c.*240
. . . . . . g.42874
tgcctcccaattctctctcctccgtccccttcctccactgctgcctaatgcaaggcagtg c.*300
. . . . . . g.42934
gctcagcagcaagaatgctggttctacatcccgaggagtgtctgaggtgcgccccactct c.*360
. . . . . . g.42994
gtacagaggctgtttgggcagccttgcctccagagagcagattccagcttcggaagcccc c.*420
. . . . . . g.43054
tggtctaacttgggatctgggaatggaaggtgctcccatcggaggggaccctcagagccc c.*480
. . . . . . g.43114
tggagactgccaggtgggcctgctgccactgtaagccaaaaggtggggaagtcctgactc c.*540
. . . . . . g.43174
cagggtccttgccccacccctgcctgccacctgggccctcacagcccagaccctcactgg c.*600
. . . . g.43215
gaggtgagctcagctgccctttggaataaagctgcctgatc c.*641
(downstream sequence)
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