Canonical Allele Identifier: CA2620818700

Gene: MVK

Linked Data

• gnomAD v4: 12-109595108-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595109del , CM000674.2:g.109595109del	GRCh38
NC_000012.11:g.110032914del , CM000674.1:g.110032914del	GRCh37
NC_000012.10:g.108517297del	NCBI36
NG_007702.1:g.26415del , LRG_156:g.26415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.124del	ENSP00000439134.1:p.Arg42GlyfsTer9
ENST00000546277.6:c.967del	ENSP00000438153.2:p.Arg323GlyfsTer9
ENST00000636529.2:n.606del
ENST00000697195.1:c.*731del	ENSP00000513181.1:n.*731del
ENST00000697196.1:c.*140del	ENSP00000513182.1:n.*140del
ENST00000697197.1:n.2996del
ENST00000697198.1:n.1351del
ENST00000228510.8:c.967del MANE Select	ENSP00000228510.3:p.Arg323GlyfsTer9
ENST00000636529.1:c.592del
ENST00000636996.1:c.815del
ENST00000228510.7:c.967del	ENSP00000228510.3:p.Arg323GlyfsTer9
ENST00000392727.7:c.811del	ENSP00000376487.3:p.Arg271GlyfsTer9
ENST00000447878.6:c.*414del	ENSP00000415555.2:n.*414del
ENST00000537237.5:c.*640del	ENSP00000445382.1:n.*640del
ENST00000539575.4:c.967del	ENSP00000443551.2:p.Arg323GlyfsTer9
ENST00000539696.5:c.124del	ENSP00000439134.1:p.Arg42GlyfsTer9
ENST00000540353.1:n.3200del
ENST00000625889.2:c.811del	ENSP00000486846.1:p.Arg271GlyfsTer9
ENST00000629016.2:c.*414del	ENSP00000486804.1:n.*414del
NM_000431.3:c.967del	NP_000422.1:p.Arg323GlyfsTer9
NM_001114185.2:c.967del	NP_001107657.1:p.Arg323GlyfsTer9
NM_001301182.1:c.811del	NP_001288111.1:p.Arg271GlyfsTer9
XM_011538372.1:c.967del	XP_011536674.1:p.Arg323GlyfsTer9
XM_017019313.2:c.811del	XP_016874802.1:p.Arg271GlyfsTer9
XM_017019314.1:c.967del	XP_016874803.1:p.Arg323GlyfsTer9
NM_000431.4:c.967del MANE Select	NP_000422.1:p.Arg323GlyfsTer9
NM_001114185.3:c.967del	NP_001107657.1:p.Arg323GlyfsTer9
NM_001301182.2:c.811del	NP_001288111.1:p.Arg271GlyfsTer9