(used for variant description)
(last modified December 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006063.2 in the KLHL41 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.12, covering KLHL41 transcript NM_006063.2.
(upstream sequence)
. g.5017
ctttttacagctagacc c.-61
. . . . . . g.5077
tgtgtgctgcaaggagctaaggccttcagtgtccccttccttacccaggtttctcacaga c.-1
. . . . . . g.5137
ATGGATTCCCAGCGGGAACTTGCAGAGGAACTGCGGCTTTACCAATCCACCCTTCTTCAG c.60
M D S Q R E L A E E L R L Y Q S T L L Q p.20
. . . . . . g.5197
GATGGTCTAAAAGATCTCCTGGATGAGAAAAAATTCATCGATTGCACCCTAAAAGCAGGT c.120
D G L K D L L D E K K F I D C T L K A G p.40
. . . . . . g.5257
GACAAAAGTCTTCCTTGCCACAGATTGATTTTGTCAGCTTGTAGTCCTTACTTCCGTGAG c.180
D K S L P C H R L I L S A C S P Y F R E p.60
. . . . . . g.5317
TACTTTTTATCTGAAATTGATGAGGCGAAAAAAAAGGAGGTAGTGCTAGACAATGTGGAT c.240
Y F L S E I D E A K K K E V V L D N V D p.80
. . . . . . g.5377
CCTGCTATACTTGATTTAATCATCAAATACCTGTACTCTGCCAGTATTGATCTCAATGAC c.300
P A I L D L I I K Y L Y S A S I D L N D p.100
. . . . . . g.5437
GGAAATGTGCAAGATATTTTTGCATTGGCCAGCCGCTTTCAGATCCCCTCAGTGTTTACT c.360
G N V Q D I F A L A S R F Q I P S V F T p.120
. . . . . . g.5497
GTCTGCGTTTCTTATCTTCAGAAAAGACTTGCTCCTGGTAACTGTCTAGCCATCCTAAGA c.420
V C V S Y L Q K R L A P G N C L A I L R p.140
. . . . . . g.5557
TTAGGACTTCTTCTTGACTGCCCGAGACTCGCCATTTCTGCCCGTGAATTTGTGTCTGAT c.480
L G L L L D C P R L A I S A R E F V S D p.160
. . . . . . g.5617
CGCTTTGTACAGATTTGTAAGGAAGAGGACTTTATGCAACTGTCTCCACAGGAACTGATC c.540
R F V Q I C K E E D F M Q L S P Q E L I p.180
. . . . . . g.5677
TCAGTCATTTCAAATGACAGCCTAAATGTAGAAAAAGAAGAAGCAGTATTTGAGGCAGTG c.600
S V I S N D S L N V E K E E A V F E A V p.200
. . . . . . g.5737
ATGAAATGGGTGCGAACAGACAAGGAAAACAGGGTTAAAAACCTTAGTGAAGTGTTTGAT c.660
M K W V R T D K E N R V K N L S E V F D p.220
. . . . . . g.5797
TGTATCCGTTTTCGCCTTATGACAGAAAAATATTTTAAGGATCATGTTGAGAAAGATGAT c.720
C I R F R L M T E K Y F K D H V E K D D p.240
. . . . . . g.5857
ATAATTAAAAGCAACCCAGACCTCCAGAAAAAAATCAAAGTTCTAAAAGATGCTTTCGCA c.780
I I K S N P D L Q K K I K V L K D A F A p.260
. . . . . . g.5917
GGCAAACTCCCAGAACCTAGCAAAAATGCCGCGAAGACTGGGGCTGGTGAGGTGAATGGT c.840
G K L P E P S K N A A K T G A G E V N G p.280
. . . . . . g.5977
GATGTTGGTGATGAAGATTTACTTCCTGGTTACCTGAATGACATTCCCAGGCATGGAATG c.900
D V G D E D L L P G Y L N D I P R H G M p.300
. . . . . . g.6037
TTTGTAAAAGACCTCATCCTCTTGGTTAATGACACAGCAGCAGTGGCTTATGACCCCACG c.960
F V K D L I L L V N D T A A V A Y D P T p.320
. . . . . . g.6097
GAAAATGAATGCTACCTTACTGCACTGGCTGAGCAGATTCCCAGAAATCATTCCAGCATT c.1020
E N E C Y L T A L A E Q I P R N H S S I p.340
. . . . . . g.6157
GTTACCCAGCAAAATCAGATATATGTGGTAGGAGGACTATATGTGGATGAAGAAAATAAG c.1080
V T Q Q N Q I Y V V G G L Y V D E E N K p.360
. . . | 02 . . . g.9902
GATCAACCTCTACAGTCATACTTCTTCCAG | CTCGATAGCATAGCATCTGAATGGGTTGGA c.1140
D Q P L Q S Y F F Q | L D S I A S E W V G p.380
. . . . . . g.9962
CTTCCACCTCTGCCTTCAGCCAGGTGTCTCTTCGGTCTGGGAGAGGTGGATGATAAAATC c.1200
L P P L P S A R C L F G L G E V D D K I p.400
. . . . . . g.10022
TATGTAGTTGCAGGCAAAGACCTTCAAACAGAGGCTTCGCTGGATTCAGTATTATGCTAT c.1260
Y V V A G K D L Q T E A S L D S V L C Y p.420
| 03 . . . . . g.10204
GATCCTGT | GGCTGCAAAATGGAACGAAGTAAAAAAACTCCCTATCAAAGTCTATGGCCAT c.1320
D P V | A A K W N E V K K L P I K V Y G H p.440
. . . . . | 04 . g.13492
AATGTGATTTCACATAAAGGGATGATATATTGTCTAGGAGGAAAGACAGATGACAA | AAAA c.1380
N V I S H K G M I Y C L G G K T D D K | K p.460
. . . . . . g.13552
TGTACAAACAGGGTGTTTATCTTCAACCCCAAAAAAGGAGATTGGAAAGATCTGGCTCCA c.1440
C T N R V F I F N P K K G D W K D L A P p.480
. . . . . . g.13612
ATGAAAATTCCTCGTTCCATGTTTGGAGTAGCAGTCCATAAAGGCAAAATTGTGATTGCA c.1500
M K I P R S M F G V A V H K G K I V I A p.500
. . . . . . g.13672
GGAGGTGTCACTGAAGATGGTCTTTCAGCTTCAGTTGAAGCTTTTGACCTTACAACAAAT c.1560
G G V T E D G L S A S V E A F D L T T N p.520
| 05 . . . . . . g.16217
AA | ATGGGATGTAATGACCGAATTTCCCCAAGAAAGAAGCTCCATCAGTTTGGTCAGCCTG c.1620
K | W D V M T E F P Q E R S S I S L V S L p.540
. . . . . . g.16277
GCTGGATCTCTGTATGCAATTGGTGGTTTTGCTATGATTCAACTGGAGTCTAAAGAATTT c.1680
A G S L Y A I G G F A M I Q L E S K E F p.560
. . | 06 . . . g.20914
GCACCCACTGAAGTCAATGACATATGGAA | GTATGAAGATGATAAAAAAGAATGGGCTGGG c.1740
A P T E V N D I W K | Y E D D K K E W A G p.580
. . . . . . g.20974
ATGTTGAAGGAAATACGTTATGCTTCAGGAGCTAGTTGCCTAGCAACACGTTTAAATCTC c.1800
M L K E I R Y A S G A S C L A T R L N L p.600
. . g.20995
TTCAAACTGTCTAAACTGTGA c.1821
F K L S K L X p.606
. . . . . . g.21055
acaaggtgacaaaacataatagattgggaggtggtttgtttggtgaatggggctttaatt c.*60
. . . . . . g.21115
tattctgttttttaaaagcttgtacagacactcatgtagaaattattcaagaagttattg c.*120
. . . . . . g.21175
tctaagagatgagcagtaggtaagaaaacctcagtcattgactcttcaatgtaatgatca c.*180
. . . . . . g.21235
gagtttaaaaccattttctaataataaattaaatcttcagttgaacaaattattttgtga c.*240
. . . . . . g.21295
atctgtttcactcaatggattgtaaagaaggctcctaaatttgagttgtttgctaatcat c.*300
. . . . . . g.21355
ttcatttgcatcattagggtatccttaaactgattttctattacaattggaagtggagaa c.*360
. . . . . . g.21415
tatgtgcatctacactaaaaaaatgtttaagatatcaaaaacctctcctcgtgcttcaaa c.*420
. . . . . . g.21475
atgacaggaatcctgtgcattatactaagaattacatgccataagatgacttcagaaatc c.*480
. . . . . . g.21535
ctacttcagaagtgtaataaatggatggggaaatcgtttgatggggaaaagtctcttgta c.*540
. . g.21561
agtaaaagtagtcaaattcaaatggc c.*566
(downstream sequence)
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