Canonical Allele Identifier: CA2797399570
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591563_109591564insACG , CM000674.2:g.109591563_109591564insACG GRCh38
NC_000012.11:g.110029368_110029369insACG , CM000674.1:g.110029368_110029369insACG GRCh37
NC_000012.10:g.108513751_108513752insACG NCBI36
NG_007702.1:g.22869_22870insACG , LRG_156:g.22869_22870insACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.42+206_42+207insACG ENSP00000439134.1:n.42+206_42+207insACG
ENST00000546277.6:c.885+206_885+207insACG ENSP00000438153.2:n.885+206_885+207insACG
ENST00000636529.2:n.524+206_524+207insACG
ENST00000697195.1:c.*649+206_*649+207insACG ENSP00000513181.1:n.*649+206_*649+207insACG
ENST00000697196.1:c.*58+206_*58+207insACG ENSP00000513182.1:n.*58+206_*58+207insACG
ENST00000697197.1:n.2914+206_2914+207insACG
ENST00000228510.8:c.885+206_885+207insACG MANE Select ENSP00000228510.3:n.885+206_885+207insACG
ENST00000636529.1:c.510+206_510+207insACG
ENST00000636996.1:c.733+206_733+207insACG
ENST00000228510.7:c.885+206_885+207insACG ENSP00000228510.3:n.885+206_885+207insACG
ENST00000392727.7:c.729+206_729+207insACG ENSP00000376487.3:n.729+206_729+207insACG
ENST00000447878.6:c.*332+206_*332+207insACG ENSP00000415555.2:n.*332+206_*332+207insACG
ENST00000537237.5:c.*558+206_*558+207insACG ENSP00000445382.1:n.*558+206_*558+207insACG
ENST00000539575.4:c.885+206_885+207insACG ENSP00000443551.2:n.885+206_885+207insACG
ENST00000539696.5:c.42+206_42+207insACG ENSP00000439134.1:n.42+206_42+207insACG
ENST00000540353.1:n.3118+206_3118+207insACG
ENST00000625889.2:c.729+206_729+207insACG ENSP00000486846.1:n.729+206_729+207insACG
ENST00000629016.2:c.*332+206_*332+207insACG ENSP00000486804.1:n.*332+206_*332+207insACG
NM_000431.3:c.885+206_885+207insACG NP_000422.1:n.885+206_885+207insACG
NM_001114185.2:c.885+206_885+207insACG NP_001107657.1:n.885+206_885+207insACG
NM_001301182.1:c.729+206_729+207insACG NP_001288111.1:n.729+206_729+207insACG
XM_011538372.1:c.885+206_885+207insACG XP_011536674.1:n.885+206_885+207insACG
XM_017019313.2:c.729+206_729+207insACG XP_016874802.1:n.729+206_729+207insACG
XM_017019314.1:c.885+206_885+207insACG XP_016874803.1:n.885+206_885+207insACG
XM_024448982.1:c.1091_1092insACG XP_024304750.1:p.Pro364_Ser365insArg
NM_000431.4:c.885+206_885+207insACG MANE Select NP_000422.1:n.885+206_885+207insACG
NM_001114185.3:c.885+206_885+207insACG NP_001107657.1:n.885+206_885+207insACG
NM_001301182.2:c.729+206_729+207insACG NP_001288111.1:n.729+206_729+207insACG