Canonical Allele Identifier: CA2797412156
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109575023_109575024insACA , CM000674.2:g.109575023_109575024insACA GRCh38
NC_000012.11:g.110012828_110012829insACA , CM000674.1:g.110012828_110012829insACA GRCh37
NC_000012.10:g.108497211_108497212insACA NCBI36
NG_007096.1:g.3474_3475insTGT
NG_007702.1:g.6329_6330insACA , LRG_156:g.6329_6330insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-92+1150_-92+1151insACA ENSP00000439134.1:n.-92+1150_-92+1151insACA
ENST00000546277.6:c.78+123_78+124insACA ENSP00000438153.2:n.78+123_78+124insACA
ENST00000636529.2:n.78+123_78+124insACA
ENST00000697195.1:c.78+123_78+124insACA ENSP00000513181.1:n.78+123_78+124insACA
ENST00000697196.1:c.78+123_78+124insACA ENSP00000513182.1:n.78+123_78+124insACA
ENST00000228510.8:c.78+123_78+124insACA MANE Select ENSP00000228510.3:n.78+123_78+124insACA
ENST00000636529.1:c.64+123_64+124insACA
ENST00000636996.1:c.71+123_71+124insACA
ENST00000639206.1:c.78+123_78+124insACA ENSP00000492778.1:n.78+123_78+124insACA
ENST00000228510.7:c.78+123_78+124insACA ENSP00000228510.3:n.78+123_78+124insACA
ENST00000392727.7:c.78+123_78+124insACA ENSP00000376487.3:n.78+123_78+124insACA
ENST00000447878.6:c.78+123_78+124insACA ENSP00000415555.2:n.78+123_78+124insACA
ENST00000535044.1:n.323+123_323+124insACA
ENST00000537237.5:c.78+123_78+124insACA ENSP00000445382.1:n.78+123_78+124insACA
ENST00000539335.5:c.78+123_78+124insACA ENSP00000440379.1:n.78+123_78+124insACA
ENST00000539575.4:c.78+123_78+124insACA ENSP00000443551.2:n.78+123_78+124insACA
ENST00000539696.5:c.-92+1150_-92+1151insACA ENSP00000439134.1:n.-92+1150_-92+1151insACA
ENST00000545774.5:c.78+123_78+124insACA ENSP00000443978.1:n.78+123_78+124insACA
ENST00000546277.5:c.78+123_78+124insACA ENSP00000438153.1:n.78+123_78+124insACA
ENST00000625889.2:c.78+123_78+124insACA ENSP00000486846.1:n.78+123_78+124insACA
ENST00000629016.2:c.78+123_78+124insACA ENSP00000486804.1:n.78+123_78+124insACA
NM_000431.3:c.78+123_78+124insACA NP_000422.1:n.78+123_78+124insACA
NM_001114185.2:c.78+123_78+124insACA NP_001107657.1:n.78+123_78+124insACA
NM_001301182.1:c.78+123_78+124insACA NP_001288111.1:n.78+123_78+124insACA
XM_011538372.1:c.78+123_78+124insACA XP_011536674.1:n.78+123_78+124insACA
XM_017019313.2:c.78+123_78+124insACA XP_016874802.1:n.78+123_78+124insACA
XM_017019314.1:c.78+123_78+124insACA XP_016874803.1:n.78+123_78+124insACA
XM_024448982.1:c.78+123_78+124insACA XP_024304750.1:n.78+123_78+124insACA
NM_000431.4:c.78+123_78+124insACA MANE Select NP_000422.1:n.78+123_78+124insACA
NM_001114185.3:c.78+123_78+124insACA NP_001107657.1:n.78+123_78+124insACA
NM_001301182.2:c.78+123_78+124insACA NP_001288111.1:n.78+123_78+124insACA