Canonical Allele Identifier: CA2797399540

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591529_109591530del , CM000674.2:g.109591529_109591530del	GRCh38
NC_000012.11:g.110029334_110029335del , CM000674.1:g.110029334_110029335del	GRCh37
NC_000012.10:g.108513717_108513718del	NCBI36
NG_007702.1:g.22835_22836del , LRG_156:g.22835_22836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+172_42+173del	ENSP00000439134.1:n.42+172_42+173del
ENST00000546277.6:c.885+172_885+173del	ENSP00000438153.2:n.885+172_885+173del
ENST00000636529.2:n.524+172_524+173del
ENST00000697195.1:c.*649+172_*649+173del	ENSP00000513181.1:n.*649+172_*649+173del
ENST00000697196.1:c.*58+172_*58+173del	ENSP00000513182.1:n.*58+172_*58+173del
ENST00000697197.1:n.2914+172_2914+173del
ENST00000228510.8:c.885+172_885+173del MANE Select	ENSP00000228510.3:n.885+172_885+173del
ENST00000636529.1:c.510+172_510+173del
ENST00000636996.1:c.733+172_733+173del
ENST00000228510.7:c.885+172_885+173del	ENSP00000228510.3:n.885+172_885+173del
ENST00000392727.7:c.729+172_729+173del	ENSP00000376487.3:n.729+172_729+173del
ENST00000447878.6:c.*332+172_*332+173del	ENSP00000415555.2:n.*332+172_*332+173del
ENST00000537237.5:c.*558+172_*558+173del	ENSP00000445382.1:n.*558+172_*558+173del
ENST00000539575.4:c.885+172_885+173del	ENSP00000443551.2:n.885+172_885+173del
ENST00000539696.5:c.42+172_42+173del	ENSP00000439134.1:n.42+172_42+173del
ENST00000540353.1:n.3118+172_3118+173del
ENST00000625889.2:c.729+172_729+173del	ENSP00000486846.1:n.729+172_729+173del
ENST00000629016.2:c.*332+172_*332+173del	ENSP00000486804.1:n.*332+172_*332+173del
NM_000431.3:c.885+172_885+173del	NP_000422.1:n.885+172_885+173del
NM_001114185.2:c.885+172_885+173del	NP_001107657.1:n.885+172_885+173del
NM_001301182.1:c.729+172_729+173del	NP_001288111.1:n.729+172_729+173del
XM_011538372.1:c.885+172_885+173del	XP_011536674.1:n.885+172_885+173del
XM_017019313.2:c.729+172_729+173del	XP_016874802.1:n.729+172_729+173del
XM_017019314.1:c.885+172_885+173del	XP_016874803.1:n.885+172_885+173del
XM_024448982.1:c.1057_1058del	XP_024304750.1:p.Val353IlefsTer13
NM_000431.4:c.885+172_885+173del MANE Select	NP_000422.1:n.885+172_885+173del
NM_001114185.3:c.885+172_885+173del	NP_001107657.1:n.885+172_885+173del
NM_001301182.2:c.729+172_729+173del	NP_001288111.1:n.729+172_729+173del