Canonical Allele Identifier: CA2797399474

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591481_109591482insACT , CM000674.2:g.109591481_109591482insACT	GRCh38
NC_000012.11:g.110029286_110029287insACT , CM000674.1:g.110029286_110029287insACT	GRCh37
NC_000012.10:g.108513669_108513670insACT	NCBI36
NG_007702.1:g.22787_22788insACT , LRG_156:g.22787_22788insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+124_42+125insACT	ENSP00000439134.1:n.42+124_42+125insACT
ENST00000546277.6:c.885+124_885+125insACT	ENSP00000438153.2:n.885+124_885+125insACT
ENST00000636529.2:n.524+124_524+125insACT
ENST00000697195.1:c.*649+124_*649+125insACT	ENSP00000513181.1:n.*649+124_*649+125insACT
ENST00000697196.1:c.*58+124_*58+125insACT	ENSP00000513182.1:n.*58+124_*58+125insACT
ENST00000697197.1:n.2914+124_2914+125insACT
ENST00000228510.8:c.885+124_885+125insACT MANE Select	ENSP00000228510.3:n.885+124_885+125insACT
ENST00000636529.1:c.510+124_510+125insACT
ENST00000636996.1:c.733+124_733+125insACT
ENST00000228510.7:c.885+124_885+125insACT	ENSP00000228510.3:n.885+124_885+125insACT
ENST00000392727.7:c.729+124_729+125insACT	ENSP00000376487.3:n.729+124_729+125insACT
ENST00000447878.6:c.*332+124_*332+125insACT	ENSP00000415555.2:n.*332+124_*332+125insACT
ENST00000537237.5:c.*558+124_*558+125insACT	ENSP00000445382.1:n.*558+124_*558+125insACT
ENST00000539575.4:c.885+124_885+125insACT	ENSP00000443551.2:n.885+124_885+125insACT
ENST00000539696.5:c.42+124_42+125insACT	ENSP00000439134.1:n.42+124_42+125insACT
ENST00000540353.1:n.3118+124_3118+125insACT
ENST00000625889.2:c.729+124_729+125insACT	ENSP00000486846.1:n.729+124_729+125insACT
ENST00000629016.2:c.*332+124_*332+125insACT	ENSP00000486804.1:n.*332+124_*332+125insACT
NM_000431.3:c.885+124_885+125insACT	NP_000422.1:n.885+124_885+125insACT
NM_001114185.2:c.885+124_885+125insACT	NP_001107657.1:n.885+124_885+125insACT
NM_001301182.1:c.729+124_729+125insACT	NP_001288111.1:n.729+124_729+125insACT
XM_011538372.1:c.885+124_885+125insACT	XP_011536674.1:n.885+124_885+125insACT
XM_017019313.2:c.729+124_729+125insACT	XP_016874802.1:n.729+124_729+125insACT
XM_017019314.1:c.885+124_885+125insACT	XP_016874803.1:n.885+124_885+125insACT
XM_024448982.1:c.1009_1010insACT	XP_024304750.1:p.Pro336_Leu337insHis
NM_000431.4:c.885+124_885+125insACT MANE Select	NP_000422.1:n.885+124_885+125insACT
NM_001114185.3:c.885+124_885+125insACT	NP_001107657.1:n.885+124_885+125insACT
NM_001301182.2:c.729+124_729+125insACT	NP_001288111.1:n.729+124_729+125insACT