Canonical Allele Identifier: CA2620817012

Gene: MVK

Linked Data

• gnomAD v4: 12-109581533-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581536_109581537del , CM000674.2:g.109581536_109581537del	GRCh38
NC_000012.11:g.110019341_110019342del , CM000674.1:g.110019341_110019342del	GRCh37
NC_000012.10:g.108503724_108503725del	NCBI36
NG_007702.1:g.12842_12843del , LRG_156:g.12842_12843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+7663_-92+7664del	ENSP00000439134.1:n.-92+7663_-92+7664del
ENST00000546277.6:c.513_514del	ENSP00000438153.2:p.Asp172LeufsTer14
ENST00000636529.2:n.79-4486_79-4485del
ENST00000697195.1:c.*277_*278del	ENSP00000513181.1:n.*277_*278del
ENST00000697196.1:c.513_514del	ENSP00000513182.1:p.Asp172LeufsTer14
ENST00000228510.8:c.513_514del MANE Select	ENSP00000228510.3:p.Asp172LeufsTer14
ENST00000636529.1:c.65-4486_65-4485del
ENST00000636996.1:c.361_362del
ENST00000228510.7:c.513_514del	ENSP00000228510.3:p.Asp172LeufsTer14
ENST00000392727.7:c.371+1590_371+1591del	ENSP00000376487.3:n.371+1590_371+1591del
ENST00000447878.6:c.227-4486_227-4485del	ENSP00000415555.2:n.227-4486_227-4485del
ENST00000535044.1:n.472-4486_472-4485del
ENST00000537237.5:c.*277_*278del	ENSP00000445382.1:n.*277_*278del
ENST00000539575.4:c.513_514del	ENSP00000443551.2:p.Asp172LeufsTer14
ENST00000539696.5:c.-92+7663_-92+7664del	ENSP00000439134.1:n.-92+7663_-92+7664del
ENST00000545516.1:n.58_59del
ENST00000545774.5:c.227-4486_227-4485del	ENSP00000443978.1:n.227-4486_227-4485del
ENST00000546277.5:c.513_514del	ENSP00000438153.1:p.Asp172LeufsTer14
ENST00000625889.2:c.371+1590_371+1591del	ENSP00000486846.1:n.371+1590_371+1591del
ENST00000629016.2:c.227-4486_227-4485del	ENSP00000486804.1:n.227-4486_227-4485del
NM_000431.3:c.513_514del	NP_000422.1:p.Asp172LeufsTer14
NM_001114185.2:c.513_514del	NP_001107657.1:p.Asp172LeufsTer14
NM_001301182.1:c.371+1590_371+1591del	NP_001288111.1:n.371+1590_371+1591del
XM_011538372.1:c.513_514del	XP_011536674.1:p.Asp172LeufsTer14
XM_017019313.2:c.371+1590_371+1591del	XP_016874802.1:n.371+1590_371+1591del
XM_017019314.1:c.513_514del	XP_016874803.1:p.Asp172LeufsTer14
XM_024448982.1:c.513_514del	XP_024304750.1:p.Asp172LeufsTer14
NM_000431.4:c.513_514del MANE Select	NP_000422.1:p.Asp172LeufsTer14
NM_001114185.3:c.513_514del	NP_001107657.1:p.Asp172LeufsTer14
NM_001301182.2:c.371+1590_371+1591del	NP_001288111.1:n.371+1590_371+1591del