Canonical Allele Identifier: CA2797399448

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591448_109591449insACA , CM000674.2:g.109591448_109591449insACA	GRCh38
NC_000012.11:g.110029253_110029254insACA , CM000674.1:g.110029253_110029254insACA	GRCh37
NC_000012.10:g.108513636_108513637insACA	NCBI36
NG_007702.1:g.22754_22755insACA , LRG_156:g.22754_22755insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+91_42+92insACA	ENSP00000439134.1:n.42+91_42+92insACA
ENST00000546277.6:c.885+91_885+92insACA	ENSP00000438153.2:n.885+91_885+92insACA
ENST00000636529.2:n.524+91_524+92insACA
ENST00000697195.1:c.*649+91_*649+92insACA	ENSP00000513181.1:n.*649+91_*649+92insACA
ENST00000697196.1:c.*58+91_*58+92insACA	ENSP00000513182.1:n.*58+91_*58+92insACA
ENST00000697197.1:n.2914+91_2914+92insACA
ENST00000228510.8:c.885+91_885+92insACA MANE Select	ENSP00000228510.3:n.885+91_885+92insACA
ENST00000636529.1:c.510+91_510+92insACA
ENST00000636996.1:c.733+91_733+92insACA
ENST00000228510.7:c.885+91_885+92insACA	ENSP00000228510.3:n.885+91_885+92insACA
ENST00000392727.7:c.729+91_729+92insACA	ENSP00000376487.3:n.729+91_729+92insACA
ENST00000447878.6:c.*332+91_*332+92insACA	ENSP00000415555.2:n.*332+91_*332+92insACA
ENST00000537237.5:c.*558+91_*558+92insACA	ENSP00000445382.1:n.*558+91_*558+92insACA
ENST00000539575.4:c.885+91_885+92insACA	ENSP00000443551.2:n.885+91_885+92insACA
ENST00000539696.5:c.42+91_42+92insACA	ENSP00000439134.1:n.42+91_42+92insACA
ENST00000540353.1:n.3118+91_3118+92insACA
ENST00000625889.2:c.729+91_729+92insACA	ENSP00000486846.1:n.729+91_729+92insACA
ENST00000629016.2:c.*332+91_*332+92insACA	ENSP00000486804.1:n.*332+91_*332+92insACA
NM_000431.3:c.885+91_885+92insACA	NP_000422.1:n.885+91_885+92insACA
NM_001114185.2:c.885+91_885+92insACA	NP_001107657.1:n.885+91_885+92insACA
NM_001301182.1:c.729+91_729+92insACA	NP_001288111.1:n.729+91_729+92insACA
XM_011538372.1:c.885+91_885+92insACA	XP_011536674.1:n.885+91_885+92insACA
XM_017019313.2:c.729+91_729+92insACA	XP_016874802.1:n.729+91_729+92insACA
XM_017019314.1:c.885+91_885+92insACA	XP_016874803.1:n.885+91_885+92insACA
XM_024448982.1:c.976_977insACA	XP_024304750.1:p.Pro325_Arg326insHis
NM_000431.4:c.885+91_885+92insACA MANE Select	NP_000422.1:n.885+91_885+92insACA
NM_001114185.3:c.885+91_885+92insACA	NP_001107657.1:n.885+91_885+92insACA
NM_001301182.2:c.729+91_729+92insACA	NP_001288111.1:n.729+91_729+92insACA