Canonical Allele Identifier: CA2797399567

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591557_109591558insA , CM000674.2:g.109591557_109591558insA	GRCh38
NC_000012.11:g.110029362_110029363insA , CM000674.1:g.110029362_110029363insA	GRCh37
NC_000012.10:g.108513745_108513746insA	NCBI36
NG_007702.1:g.22863_22864insA , LRG_156:g.22863_22864insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.42+200_42+201insA	ENSP00000439134.1:n.42+200_42+201insA
ENST00000546277.6:c.885+200_885+201insA	ENSP00000438153.2:n.885+200_885+201insA
ENST00000636529.2:n.524+200_524+201insA
ENST00000697195.1:c.*649+200_*649+201insA	ENSP00000513181.1:n.*649+200_*649+201insA
ENST00000697196.1:c.*58+200_*58+201insA	ENSP00000513182.1:n.*58+200_*58+201insA
ENST00000697197.1:n.2914+200_2914+201insA
ENST00000228510.8:c.885+200_885+201insA MANE Select	ENSP00000228510.3:n.885+200_885+201insA
ENST00000636529.1:c.510+200_510+201insA
ENST00000636996.1:c.733+200_733+201insA
ENST00000228510.7:c.885+200_885+201insA	ENSP00000228510.3:n.885+200_885+201insA
ENST00000392727.7:c.729+200_729+201insA	ENSP00000376487.3:n.729+200_729+201insA
ENST00000447878.6:c.*332+200_*332+201insA	ENSP00000415555.2:n.*332+200_*332+201insA
ENST00000537237.5:c.*558+200_*558+201insA	ENSP00000445382.1:n.*558+200_*558+201insA
ENST00000539575.4:c.885+200_885+201insA	ENSP00000443551.2:n.885+200_885+201insA
ENST00000539696.5:c.42+200_42+201insA	ENSP00000439134.1:n.42+200_42+201insA
ENST00000540353.1:n.3118+200_3118+201insA
ENST00000625889.2:c.729+200_729+201insA	ENSP00000486846.1:n.729+200_729+201insA
ENST00000629016.2:c.*332+200_*332+201insA	ENSP00000486804.1:n.*332+200_*332+201insA
NM_000431.3:c.885+200_885+201insA	NP_000422.1:n.885+200_885+201insA
NM_001114185.2:c.885+200_885+201insA	NP_001107657.1:n.885+200_885+201insA
NM_001301182.1:c.729+200_729+201insA	NP_001288111.1:n.729+200_729+201insA
XM_011538372.1:c.885+200_885+201insA	XP_011536674.1:n.885+200_885+201insA
XM_017019313.2:c.729+200_729+201insA	XP_016874802.1:n.729+200_729+201insA
XM_017019314.1:c.885+200_885+201insA	XP_016874803.1:n.885+200_885+201insA
XM_024448982.1:c.1085_1086insA	XP_024304750.1:p.Ile363AspfsTer4
NM_000431.4:c.885+200_885+201insA MANE Select	NP_000422.1:n.885+200_885+201insA
NM_001114185.3:c.885+200_885+201insA	NP_001107657.1:n.885+200_885+201insA
NM_001301182.2:c.729+200_729+201insA	NP_001288111.1:n.729+200_729+201insA