Canonical Allele Identifier: CA2797399542

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591533_109591535del , CM000674.2:g.109591533_109591535del	GRCh38
NC_000012.11:g.110029338_110029340del , CM000674.1:g.110029338_110029340del	GRCh37
NC_000012.10:g.108513721_108513723del	NCBI36
NG_007702.1:g.22839_22841del , LRG_156:g.22839_22841del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+176_42+178del	ENSP00000439134.1:n.42+176_42+178del
ENST00000546277.6:c.885+176_885+178del	ENSP00000438153.2:n.885+176_885+178del
ENST00000636529.2:n.524+176_524+178del
ENST00000697195.1:c.*649+176_*649+178del	ENSP00000513181.1:n.*649+176_*649+178del
ENST00000697196.1:c.*58+176_*58+178del	ENSP00000513182.1:n.*58+176_*58+178del
ENST00000697197.1:n.2914+176_2914+178del
ENST00000228510.8:c.885+176_885+178del MANE Select	ENSP00000228510.3:n.885+176_885+178del
ENST00000636529.1:c.510+176_510+178del
ENST00000636996.1:c.733+176_733+178del
ENST00000228510.7:c.885+176_885+178del	ENSP00000228510.3:n.885+176_885+178del
ENST00000392727.7:c.729+176_729+178del	ENSP00000376487.3:n.729+176_729+178del
ENST00000447878.6:c.*332+176_*332+178del	ENSP00000415555.2:n.*332+176_*332+178del
ENST00000537237.5:c.*558+176_*558+178del	ENSP00000445382.1:n.*558+176_*558+178del
ENST00000539575.4:c.885+176_885+178del	ENSP00000443551.2:n.885+176_885+178del
ENST00000539696.5:c.42+176_42+178del	ENSP00000439134.1:n.42+176_42+178del
ENST00000540353.1:n.3118+176_3118+178del
ENST00000625889.2:c.729+176_729+178del	ENSP00000486846.1:n.729+176_729+178del
ENST00000629016.2:c.*332+176_*332+178del	ENSP00000486804.1:n.*332+176_*332+178del
NM_000431.3:c.885+176_885+178del	NP_000422.1:n.885+176_885+178del
NM_001114185.2:c.885+176_885+178del	NP_001107657.1:n.885+176_885+178del
NM_001301182.1:c.729+176_729+178del	NP_001288111.1:n.729+176_729+178del
XM_011538372.1:c.885+176_885+178del	XP_011536674.1:n.885+176_885+178del
XM_017019313.2:c.729+176_729+178del	XP_016874802.1:n.729+176_729+178del
XM_017019314.1:c.885+176_885+178del	XP_016874803.1:n.885+176_885+178del
XM_024448982.1:c.1061_1063del	XP_024304750.1:p.Ser354del
NM_000431.4:c.885+176_885+178del MANE Select	NP_000422.1:n.885+176_885+178del
NM_001114185.3:c.885+176_885+178del	NP_001107657.1:n.885+176_885+178del
NM_001301182.2:c.729+176_729+178del	NP_001288111.1:n.729+176_729+178del