Canonical Allele Identifier: CA2062444969

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591548_109591549delinsCT , CM000674.2:g.109591548_109591549delinsCT	GRCh38
NC_000012.11:g.110029353_110029354delinsCT , CM000674.1:g.110029353_110029354delinsCT	GRCh37
NC_000012.10:g.108513736_108513737delinsCT	NCBI36
NG_007702.1:g.22854_22855delinsCT , LRG_156:g.22854_22855delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+191_42+192delinsCT	ENSP00000439134.1:n.42+191_42+192delinsCT
ENST00000546277.6:c.885+191_885+192delinsCT	ENSP00000438153.2:n.885+191_885+192delinsCT
ENST00000636529.2:n.524+191_524+192delinsCT
ENST00000697195.1:c.*649+191_*649+192delinsCT	ENSP00000513181.1:n.*649+191_*649+192delinsCT
ENST00000697196.1:c.*58+191_*58+192delinsCT	ENSP00000513182.1:n.*58+191_*58+192delinsCT
ENST00000697197.1:n.2914+191_2914+192delinsCT
ENST00000228510.8:c.885+191_885+192delinsCT MANE Select	ENSP00000228510.3:n.885+191_885+192delinsCT
ENST00000636529.1:c.510+191_510+192delinsCT
ENST00000636996.1:c.733+191_733+192delinsCT
ENST00000228510.7:c.885+191_885+192delinsCT	ENSP00000228510.3:n.885+191_885+192delinsCT
ENST00000392727.7:c.729+191_729+192delinsCT	ENSP00000376487.3:n.729+191_729+192delinsCT
ENST00000447878.6:c.*332+191_*332+192delinsCT	ENSP00000415555.2:n.*332+191_*332+192delinsCT
ENST00000537237.5:c.*558+191_*558+192delinsCT	ENSP00000445382.1:n.*558+191_*558+192delinsCT
ENST00000539575.4:c.885+191_885+192delinsCT	ENSP00000443551.2:n.885+191_885+192delinsCT
ENST00000539696.5:c.42+191_42+192delinsCT	ENSP00000439134.1:n.42+191_42+192delinsCT
ENST00000540353.1:n.3118+191_3118+192delinsCT
ENST00000625889.2:c.729+191_729+192delinsCT	ENSP00000486846.1:n.729+191_729+192delinsCT
ENST00000629016.2:c.*332+191_*332+192delinsCT	ENSP00000486804.1:n.*332+191_*332+192delinsCT
NM_000431.3:c.885+191_885+192delinsCT	NP_000422.1:n.885+191_885+192delinsCT
NM_001114185.2:c.885+191_885+192delinsCT	NP_001107657.1:n.885+191_885+192delinsCT
NM_001301182.1:c.729+191_729+192delinsCT	NP_001288111.1:n.729+191_729+192delinsCT
XM_011538372.1:c.885+191_885+192delinsCT	XP_011536674.1:n.885+191_885+192delinsCT
XM_017019313.2:c.729+191_729+192delinsCT	XP_016874802.1:n.729+191_729+192delinsCT
XM_017019314.1:c.885+191_885+192delinsCT	XP_016874803.1:n.885+191_885+192delinsCT
XM_024448982.1:c.1076_1077delinsCT	XP_024304750.1:p.Ser359=
NM_000431.4:c.885+191_885+192delinsCT MANE Select	NP_000422.1:n.885+191_885+192delinsCT
NM_001114185.3:c.885+191_885+192delinsCT	NP_001107657.1:n.885+191_885+192delinsCT
NM_001301182.2:c.729+191_729+192delinsCT	NP_001288111.1:n.729+191_729+192delinsCT