Canonical Allele Identifier: CA2797399447

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591449_109591458del , CM000674.2:g.109591449_109591458del	GRCh38
NC_000012.11:g.110029254_110029263del , CM000674.1:g.110029254_110029263del	GRCh37
NC_000012.10:g.108513637_108513646del	NCBI36
NG_007702.1:g.22755_22764del , LRG_156:g.22755_22764del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+92_42+101del	ENSP00000439134.1:n.42+92_42+101del
ENST00000546277.6:c.885+92_885+101del	ENSP00000438153.2:n.885+92_885+101del
ENST00000636529.2:n.524+92_524+101del
ENST00000697195.1:c.*649+92_*649+101del	ENSP00000513181.1:n.*649+92_*649+101del
ENST00000697196.1:c.*58+92_*58+101del	ENSP00000513182.1:n.*58+92_*58+101del
ENST00000697197.1:n.2914+92_2914+101del
ENST00000228510.8:c.885+92_885+101del MANE Select	ENSP00000228510.3:n.885+92_885+101del
ENST00000636529.1:c.510+92_510+101del
ENST00000636996.1:c.733+92_733+101del
ENST00000228510.7:c.885+92_885+101del	ENSP00000228510.3:n.885+92_885+101del
ENST00000392727.7:c.729+92_729+101del	ENSP00000376487.3:n.729+92_729+101del
ENST00000447878.6:c.*332+92_*332+101del	ENSP00000415555.2:n.*332+92_*332+101del
ENST00000537237.5:c.*558+92_*558+101del	ENSP00000445382.1:n.*558+92_*558+101del
ENST00000539575.4:c.885+92_885+101del	ENSP00000443551.2:n.885+92_885+101del
ENST00000539696.5:c.42+92_42+101del	ENSP00000439134.1:n.42+92_42+101del
ENST00000540353.1:n.3118+92_3118+101del
ENST00000625889.2:c.729+92_729+101del	ENSP00000486846.1:n.729+92_729+101del
ENST00000629016.2:c.*332+92_*332+101del	ENSP00000486804.1:n.*332+92_*332+101del
NM_000431.3:c.885+92_885+101del	NP_000422.1:n.885+92_885+101del
NM_001114185.2:c.885+92_885+101del	NP_001107657.1:n.885+92_885+101del
NM_001301182.1:c.729+92_729+101del	NP_001288111.1:n.729+92_729+101del
XM_011538372.1:c.885+92_885+101del	XP_011536674.1:n.885+92_885+101del
XM_017019313.2:c.729+92_729+101del	XP_016874802.1:n.729+92_729+101del
XM_017019314.1:c.885+92_885+101del	XP_016874803.1:n.885+92_885+101del
XM_024448982.1:c.977_986del	XP_024304750.1:p.Arg326HisfsTer23
NM_000431.4:c.885+92_885+101del MANE Select	NP_000422.1:n.885+92_885+101del
NM_001114185.3:c.885+92_885+101del	NP_001107657.1:n.885+92_885+101del
NM_001301182.2:c.729+92_729+101del	NP_001288111.1:n.729+92_729+101del