Canonical Allele Identifier: CA2499221431

Gene: MVK

Linked Data

• ClinVar Variation Id: 1071478
• ClinVar RCV Id: RCV001383960
• dbSNP Id: rs2136236945
• gnomAD v4: 12-109586097-C-CG

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586099dup , CM000674.2:g.109586099dup	GRCh38
NC_000012.11:g.110023904dup , CM000674.1:g.110023904dup	GRCh37
NC_000012.10:g.108508287dup	NCBI36
NG_007702.1:g.17405dup , LRG_156:g.17405dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4747dup	ENSP00000439134.1:n.-91-4747dup
ENST00000546277.6:c.605dup	ENSP00000438153.2:p.Val203SerfsTer?
ENST00000636529.2:n.156dup
ENST00000697195.1:c.*369dup	ENSP00000513181.1:n.*369dup
ENST00000697196.1:c.605dup	ENSP00000513182.1:p.Val203SerfsTer?
ENST00000228510.8:c.605dup MANE Select	ENSP00000228510.3:p.Val203SerfsTer?
ENST00000636529.1:c.142dup
ENST00000636996.1:c.453dup
ENST00000228510.7:c.605dup	ENSP00000228510.3:p.Val203SerfsTer?
ENST00000392727.7:c.449dup	ENSP00000376487.3:p.Val151SerfsTer?
ENST00000447878.6:c.*52dup	ENSP00000415555.2:n.*52dup
ENST00000537237.5:c.*369dup	ENSP00000445382.1:n.*369dup
ENST00000539575.4:c.605dup	ENSP00000443551.2:p.Val203SerfsTer?
ENST00000539696.5:c.-91-4747dup	ENSP00000439134.1:n.-91-4747dup
ENST00000545516.1:n.150dup
ENST00000545774.5:c.*52dup	ENSP00000443978.1:n.*52dup
ENST00000625889.2:c.449dup	ENSP00000486846.1:p.Val151SerfsTer?
ENST00000629016.2:c.*52dup	ENSP00000486804.1:n.*52dup
NM_000431.3:c.605dup	NP_000422.1:p.Val203SerfsTer?
NM_001114185.2:c.605dup	NP_001107657.1:p.Val203SerfsTer?
NM_001301182.1:c.449dup	NP_001288111.1:p.Val151SerfsTer?
XM_011538372.1:c.605dup	XP_011536674.1:p.Val203SerfsTer?
XM_017019313.2:c.449dup	XP_016874802.1:p.Val151SerfsTer?
XM_017019314.1:c.605dup	XP_016874803.1:p.Val203SerfsTer?
XM_024448982.1:c.605dup	XP_024304750.1:p.Val203SerfsTer?
NM_000431.4:c.605dup MANE Select	NP_000422.1:p.Val203SerfsTer?
NM_001114185.3:c.605dup	NP_001107657.1:p.Val203SerfsTer?
NM_001301182.2:c.449dup	NP_001288111.1:p.Val151SerfsTer?