Canonical Allele Identifier: CA2797399427

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591422_109591423insT , CM000674.2:g.109591422_109591423insT	GRCh38
NC_000012.11:g.110029227_110029228insT , CM000674.1:g.110029227_110029228insT	GRCh37
NC_000012.10:g.108513610_108513611insT	NCBI36
NG_007702.1:g.22728_22729insT , LRG_156:g.22728_22729insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+65_42+66insT	ENSP00000439134.1:n.42+65_42+66insT
ENST00000546277.6:c.885+65_885+66insT	ENSP00000438153.2:n.885+65_885+66insT
ENST00000636529.2:n.524+65_524+66insT
ENST00000697195.1:c.*649+65_*649+66insT	ENSP00000513181.1:n.*649+65_*649+66insT
ENST00000697196.1:c.*58+65_*58+66insT	ENSP00000513182.1:n.*58+65_*58+66insT
ENST00000697197.1:n.2914+65_2914+66insT
ENST00000228510.8:c.885+65_885+66insT MANE Select	ENSP00000228510.3:n.885+65_885+66insT
ENST00000636529.1:c.510+65_510+66insT
ENST00000636996.1:c.733+65_733+66insT
ENST00000228510.7:c.885+65_885+66insT	ENSP00000228510.3:n.885+65_885+66insT
ENST00000392727.7:c.729+65_729+66insT	ENSP00000376487.3:n.729+65_729+66insT
ENST00000447878.6:c.*332+65_*332+66insT	ENSP00000415555.2:n.*332+65_*332+66insT
ENST00000537237.5:c.*558+65_*558+66insT	ENSP00000445382.1:n.*558+65_*558+66insT
ENST00000539575.4:c.885+65_885+66insT	ENSP00000443551.2:n.885+65_885+66insT
ENST00000539696.5:c.42+65_42+66insT	ENSP00000439134.1:n.42+65_42+66insT
ENST00000540353.1:n.3118+65_3118+66insT
ENST00000625889.2:c.729+65_729+66insT	ENSP00000486846.1:n.729+65_729+66insT
ENST00000629016.2:c.*332+65_*332+66insT	ENSP00000486804.1:n.*332+65_*332+66insT
NM_000431.3:c.885+65_885+66insT	NP_000422.1:n.885+65_885+66insT
NM_001114185.2:c.885+65_885+66insT	NP_001107657.1:n.885+65_885+66insT
NM_001301182.1:c.729+65_729+66insT	NP_001288111.1:n.729+65_729+66insT
XM_011538372.1:c.885+65_885+66insT	XP_011536674.1:n.885+65_885+66insT
XM_017019313.2:c.729+65_729+66insT	XP_016874802.1:n.729+65_729+66insT
XM_017019314.1:c.885+65_885+66insT	XP_016874803.1:n.885+65_885+66insT
XM_024448982.1:c.950_951insT	XP_024304750.1:p.Asn318GlnfsTer14
NM_000431.4:c.885+65_885+66insT MANE Select	NP_000422.1:n.885+65_885+66insT
NM_001114185.3:c.885+65_885+66insT	NP_001107657.1:n.885+65_885+66insT
NM_001301182.2:c.729+65_729+66insT	NP_001288111.1:n.729+65_729+66insT