Canonical Allele Identifier: CA2797399490

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591491_109591492insA , CM000674.2:g.109591491_109591492insA	GRCh38
NC_000012.11:g.110029296_110029297insA , CM000674.1:g.110029296_110029297insA	GRCh37
NC_000012.10:g.108513679_108513680insA	NCBI36
NG_007702.1:g.22797_22798insA , LRG_156:g.22797_22798insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+134_42+135insA	ENSP00000439134.1:n.42+134_42+135insA
ENST00000546277.6:c.885+134_885+135insA	ENSP00000438153.2:n.885+134_885+135insA
ENST00000636529.2:n.524+134_524+135insA
ENST00000697195.1:c.*649+134_*649+135insA	ENSP00000513181.1:n.*649+134_*649+135insA
ENST00000697196.1:c.*58+134_*58+135insA	ENSP00000513182.1:n.*58+134_*58+135insA
ENST00000697197.1:n.2914+134_2914+135insA
ENST00000228510.8:c.885+134_885+135insA MANE Select	ENSP00000228510.3:n.885+134_885+135insA
ENST00000636529.1:c.510+134_510+135insA
ENST00000636996.1:c.733+134_733+135insA
ENST00000228510.7:c.885+134_885+135insA	ENSP00000228510.3:n.885+134_885+135insA
ENST00000392727.7:c.729+134_729+135insA	ENSP00000376487.3:n.729+134_729+135insA
ENST00000447878.6:c.*332+134_*332+135insA	ENSP00000415555.2:n.*332+134_*332+135insA
ENST00000537237.5:c.*558+134_*558+135insA	ENSP00000445382.1:n.*558+134_*558+135insA
ENST00000539575.4:c.885+134_885+135insA	ENSP00000443551.2:n.885+134_885+135insA
ENST00000539696.5:c.42+134_42+135insA	ENSP00000439134.1:n.42+134_42+135insA
ENST00000540353.1:n.3118+134_3118+135insA
ENST00000625889.2:c.729+134_729+135insA	ENSP00000486846.1:n.729+134_729+135insA
ENST00000629016.2:c.*332+134_*332+135insA	ENSP00000486804.1:n.*332+134_*332+135insA
NM_000431.3:c.885+134_885+135insA	NP_000422.1:n.885+134_885+135insA
NM_001114185.2:c.885+134_885+135insA	NP_001107657.1:n.885+134_885+135insA
NM_001301182.1:c.729+134_729+135insA	NP_001288111.1:n.729+134_729+135insA
XM_011538372.1:c.885+134_885+135insA	XP_011536674.1:n.885+134_885+135insA
XM_017019313.2:c.729+134_729+135insA	XP_016874802.1:n.729+134_729+135insA
XM_017019314.1:c.885+134_885+135insA	XP_016874803.1:n.885+134_885+135insA
XM_024448982.1:c.1019_1020insA	XP_024304750.1:p.Leu341SerfsTer26
NM_000431.4:c.885+134_885+135insA MANE Select	NP_000422.1:n.885+134_885+135insA
NM_001114185.3:c.885+134_885+135insA	NP_001107657.1:n.885+134_885+135insA
NM_001301182.2:c.729+134_729+135insA	NP_001288111.1:n.729+134_729+135insA