Canonical Allele Identifier: CA645587880

Gene: MVK

Linked Data

• COSMIC: COSM143668

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581522_109581523delinsTT , CM000674.2:g.109581522_109581523delinsTT	GRCh38
NC_000012.11:g.110019327_110019328delinsTT , CM000674.1:g.110019327_110019328delinsTT	GRCh37
NC_000012.10:g.108503710_108503711delinsTT	NCBI36
NG_007702.1:g.12828_12829delinsTT , LRG_156:g.12828_12829delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+7649_-92+7650delinsTT	ENSP00000439134.1:n.-92+7649_-92+7650delinsTT
ENST00000546277.6:c.499_500delinsTT	ENSP00000438153.2:p.Pro167Leu
ENST00000636529.2:n.79-4500_79-4499delinsTT
ENST00000697195.1:c.*263_*264delinsTT	ENSP00000513181.1:n.*263_*264delinsTT
ENST00000697196.1:c.499_500delinsTT	ENSP00000513182.1:p.Pro167Leu
ENST00000228510.8:c.499_500delinsTT MANE Select	ENSP00000228510.3:p.Pro167Leu
ENST00000636529.1:c.65-4500_65-4499delinsTT
ENST00000636996.1:c.347_348delinsTT
ENST00000228510.7:c.499_500delinsTT	ENSP00000228510.3:p.Pro167Leu
ENST00000392727.7:c.371+1576_371+1577delinsTT	ENSP00000376487.3:n.371+1576_371+1577delinsTT
ENST00000447878.6:c.227-4500_227-4499delinsTT	ENSP00000415555.2:n.227-4500_227-4499delinsTT
ENST00000535044.1:n.472-4500_472-4499delinsTT
ENST00000537237.5:c.*263_*264delinsTT	ENSP00000445382.1:n.*263_*264delinsTT
ENST00000539335.5:c.499_500delinsTT	ENSP00000440379.1:p.Pro167Leu
ENST00000539575.4:c.499_500delinsTT	ENSP00000443551.2:p.Pro167Leu
ENST00000539696.5:c.-92+7649_-92+7650delinsTT	ENSP00000439134.1:n.-92+7649_-92+7650delinsTT
ENST00000545516.1:n.44_45delinsTT
ENST00000545774.5:c.227-4500_227-4499delinsTT	ENSP00000443978.1:n.227-4500_227-4499delinsTT
ENST00000546277.5:c.499_500delinsTT	ENSP00000438153.1:p.Pro167Leu
ENST00000625889.2:c.371+1576_371+1577delinsTT	ENSP00000486846.1:n.371+1576_371+1577delinsTT
ENST00000629016.2:c.227-4500_227-4499delinsTT	ENSP00000486804.1:n.227-4500_227-4499delinsTT
NM_000431.3:c.499_500delinsTT	NP_000422.1:p.Pro167Leu
NM_001114185.2:c.499_500delinsTT	NP_001107657.1:p.Pro167Leu
NM_001301182.1:c.371+1576_371+1577delinsTT	NP_001288111.1:n.371+1576_371+1577delinsTT
XM_011538372.1:c.499_500delinsTT	XP_011536674.1:p.Pro167Leu
XM_017019313.2:c.371+1576_371+1577delinsTT	XP_016874802.1:n.371+1576_371+1577delinsTT
XM_017019314.1:c.499_500delinsTT	XP_016874803.1:p.Pro167Leu
XM_024448982.1:c.499_500delinsTT	XP_024304750.1:p.Pro167Leu
NM_000431.4:c.499_500delinsTT MANE Select	NP_000422.1:p.Pro167Leu
NM_001114185.3:c.499_500delinsTT	NP_001107657.1:p.Pro167Leu
NM_001301182.2:c.371+1576_371+1577delinsTT	NP_001288111.1:n.371+1576_371+1577delinsTT