Canonical Allele Identifier: CA2797399439

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591441_109591442del , CM000674.2:g.109591441_109591442del	GRCh38
NC_000012.11:g.110029246_110029247del , CM000674.1:g.110029246_110029247del	GRCh37
NC_000012.10:g.108513629_108513630del	NCBI36
NG_007702.1:g.22747_22748del , LRG_156:g.22747_22748del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+84_42+85del	ENSP00000439134.1:n.42+84_42+85del
ENST00000546277.6:c.885+84_885+85del	ENSP00000438153.2:n.885+84_885+85del
ENST00000636529.2:n.524+84_524+85del
ENST00000697195.1:c.*649+84_*649+85del	ENSP00000513181.1:n.*649+84_*649+85del
ENST00000697196.1:c.*58+84_*58+85del	ENSP00000513182.1:n.*58+84_*58+85del
ENST00000697197.1:n.2914+84_2914+85del
ENST00000228510.8:c.885+84_885+85del MANE Select	ENSP00000228510.3:n.885+84_885+85del
ENST00000636529.1:c.510+84_510+85del
ENST00000636996.1:c.733+84_733+85del
ENST00000228510.7:c.885+84_885+85del	ENSP00000228510.3:n.885+84_885+85del
ENST00000392727.7:c.729+84_729+85del	ENSP00000376487.3:n.729+84_729+85del
ENST00000447878.6:c.*332+84_*332+85del	ENSP00000415555.2:n.*332+84_*332+85del
ENST00000537237.5:c.*558+84_*558+85del	ENSP00000445382.1:n.*558+84_*558+85del
ENST00000539575.4:c.885+84_885+85del	ENSP00000443551.2:n.885+84_885+85del
ENST00000539696.5:c.42+84_42+85del	ENSP00000439134.1:n.42+84_42+85del
ENST00000540353.1:n.3118+84_3118+85del
ENST00000625889.2:c.729+84_729+85del	ENSP00000486846.1:n.729+84_729+85del
ENST00000629016.2:c.*332+84_*332+85del	ENSP00000486804.1:n.*332+84_*332+85del
NM_000431.3:c.885+84_885+85del	NP_000422.1:n.885+84_885+85del
NM_001114185.2:c.885+84_885+85del	NP_001107657.1:n.885+84_885+85del
NM_001301182.1:c.729+84_729+85del	NP_001288111.1:n.729+84_729+85del
XM_011538372.1:c.885+84_885+85del	XP_011536674.1:n.885+84_885+85del
XM_017019313.2:c.729+84_729+85del	XP_016874802.1:n.729+84_729+85del
XM_017019314.1:c.885+84_885+85del	XP_016874803.1:n.885+84_885+85del
XM_024448982.1:c.969_970del	XP_024304750.1:p.Arg323SerfsTer8
NM_000431.4:c.885+84_885+85del MANE Select	NP_000422.1:n.885+84_885+85del
NM_001114185.3:c.885+84_885+85del	NP_001107657.1:n.885+84_885+85del
NM_001301182.2:c.729+84_729+85del	NP_001288111.1:n.729+84_729+85del