Canonical Allele Identifier: CA2797399480

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591485_109591486del , CM000674.2:g.109591485_109591486del	GRCh38
NC_000012.11:g.110029290_110029291del , CM000674.1:g.110029290_110029291del	GRCh37
NC_000012.10:g.108513673_108513674del	NCBI36
NG_007702.1:g.22791_22792del , LRG_156:g.22791_22792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+128_42+129del	ENSP00000439134.1:n.42+128_42+129del
ENST00000546277.6:c.885+128_885+129del	ENSP00000438153.2:n.885+128_885+129del
ENST00000636529.2:n.524+128_524+129del
ENST00000697195.1:c.*649+128_*649+129del	ENSP00000513181.1:n.*649+128_*649+129del
ENST00000697196.1:c.*58+128_*58+129del	ENSP00000513182.1:n.*58+128_*58+129del
ENST00000697197.1:n.2914+128_2914+129del
ENST00000228510.8:c.885+128_885+129del MANE Select	ENSP00000228510.3:n.885+128_885+129del
ENST00000636529.1:c.510+128_510+129del
ENST00000636996.1:c.733+128_733+129del
ENST00000228510.7:c.885+128_885+129del	ENSP00000228510.3:n.885+128_885+129del
ENST00000392727.7:c.729+128_729+129del	ENSP00000376487.3:n.729+128_729+129del
ENST00000447878.6:c.*332+128_*332+129del	ENSP00000415555.2:n.*332+128_*332+129del
ENST00000537237.5:c.*558+128_*558+129del	ENSP00000445382.1:n.*558+128_*558+129del
ENST00000539575.4:c.885+128_885+129del	ENSP00000443551.2:n.885+128_885+129del
ENST00000539696.5:c.42+128_42+129del	ENSP00000439134.1:n.42+128_42+129del
ENST00000540353.1:n.3118+128_3118+129del
ENST00000625889.2:c.729+128_729+129del	ENSP00000486846.1:n.729+128_729+129del
ENST00000629016.2:c.*332+128_*332+129del	ENSP00000486804.1:n.*332+128_*332+129del
NM_000431.3:c.885+128_885+129del	NP_000422.1:n.885+128_885+129del
NM_001114185.2:c.885+128_885+129del	NP_001107657.1:n.885+128_885+129del
NM_001301182.1:c.729+128_729+129del	NP_001288111.1:n.729+128_729+129del
XM_011538372.1:c.885+128_885+129del	XP_011536674.1:n.885+128_885+129del
XM_017019313.2:c.729+128_729+129del	XP_016874802.1:n.729+128_729+129del
XM_017019314.1:c.885+128_885+129del	XP_016874803.1:n.885+128_885+129del
XM_024448982.1:c.1013_1014del	XP_024304750.1:p.Ala338ValfsTer28
NM_000431.4:c.885+128_885+129del MANE Select	NP_000422.1:n.885+128_885+129del
NM_001114185.3:c.885+128_885+129del	NP_001107657.1:n.885+128_885+129del
NM_001301182.2:c.729+128_729+129del	NP_001288111.1:n.729+128_729+129del