Canonical Allele Identifier: CA2797399443

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591446_109591451del , CM000674.2:g.109591446_109591451del	GRCh38
NC_000012.11:g.110029251_110029256del , CM000674.1:g.110029251_110029256del	GRCh37
NC_000012.10:g.108513634_108513639del	NCBI36
NG_007702.1:g.22752_22757del , LRG_156:g.22752_22757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+89_42+94del	ENSP00000439134.1:n.42+89_42+94del
ENST00000546277.6:c.885+89_885+94del	ENSP00000438153.2:n.885+89_885+94del
ENST00000636529.2:n.524+89_524+94del
ENST00000697195.1:c.*649+89_*649+94del	ENSP00000513181.1:n.*649+89_*649+94del
ENST00000697196.1:c.*58+89_*58+94del	ENSP00000513182.1:n.*58+89_*58+94del
ENST00000697197.1:n.2914+89_2914+94del
ENST00000228510.8:c.885+89_885+94del MANE Select	ENSP00000228510.3:n.885+89_885+94del
ENST00000636529.1:c.510+89_510+94del
ENST00000636996.1:c.733+89_733+94del
ENST00000228510.7:c.885+89_885+94del	ENSP00000228510.3:n.885+89_885+94del
ENST00000392727.7:c.729+89_729+94del	ENSP00000376487.3:n.729+89_729+94del
ENST00000447878.6:c.*332+89_*332+94del	ENSP00000415555.2:n.*332+89_*332+94del
ENST00000537237.5:c.*558+89_*558+94del	ENSP00000445382.1:n.*558+89_*558+94del
ENST00000539575.4:c.885+89_885+94del	ENSP00000443551.2:n.885+89_885+94del
ENST00000539696.5:c.42+89_42+94del	ENSP00000439134.1:n.42+89_42+94del
ENST00000540353.1:n.3118+89_3118+94del
ENST00000625889.2:c.729+89_729+94del	ENSP00000486846.1:n.729+89_729+94del
ENST00000629016.2:c.*332+89_*332+94del	ENSP00000486804.1:n.*332+89_*332+94del
NM_000431.3:c.885+89_885+94del	NP_000422.1:n.885+89_885+94del
NM_001114185.2:c.885+89_885+94del	NP_001107657.1:n.885+89_885+94del
NM_001301182.1:c.729+89_729+94del	NP_001288111.1:n.729+89_729+94del
XM_011538372.1:c.885+89_885+94del	XP_011536674.1:n.885+89_885+94del
XM_017019313.2:c.729+89_729+94del	XP_016874802.1:n.729+89_729+94del
XM_017019314.1:c.885+89_885+94del	XP_016874803.1:n.885+89_885+94del
XM_024448982.1:c.974_979del	XP_024304750.1:p.Pro325_Lys327delinsGln
NM_000431.4:c.885+89_885+94del MANE Select	NP_000422.1:n.885+89_885+94del
NM_001114185.3:c.885+89_885+94del	NP_001107657.1:n.885+89_885+94del
NM_001301182.2:c.729+89_729+94del	NP_001288111.1:n.729+89_729+94del