Canonical Allele Identifier: CA2797412153

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109575020_109575021insAGA , CM000674.2:g.109575020_109575021insAGA	GRCh38
NC_000012.11:g.110012825_110012826insAGA , CM000674.1:g.110012825_110012826insAGA	GRCh37
NC_000012.10:g.108497208_108497209insAGA	NCBI36
NG_007096.1:g.3477_3478insTCT
NG_007702.1:g.6326_6327insAGA , LRG_156:g.6326_6327insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+1147_-92+1148insAGA	ENSP00000439134.1:n.-92+1147_-92+1148insAGA
ENST00000546277.6:c.78+120_78+121insAGA	ENSP00000438153.2:n.78+120_78+121insAGA
ENST00000636529.2:n.78+120_78+121insAGA
ENST00000697195.1:c.78+120_78+121insAGA	ENSP00000513181.1:n.78+120_78+121insAGA
ENST00000697196.1:c.78+120_78+121insAGA	ENSP00000513182.1:n.78+120_78+121insAGA
ENST00000228510.8:c.78+120_78+121insAGA MANE Select	ENSP00000228510.3:n.78+120_78+121insAGA
ENST00000636529.1:c.64+120_64+121insAGA
ENST00000636996.1:c.71+120_71+121insAGA
ENST00000639206.1:c.78+120_78+121insAGA	ENSP00000492778.1:n.78+120_78+121insAGA
ENST00000228510.7:c.78+120_78+121insAGA	ENSP00000228510.3:n.78+120_78+121insAGA
ENST00000392727.7:c.78+120_78+121insAGA	ENSP00000376487.3:n.78+120_78+121insAGA
ENST00000447878.6:c.78+120_78+121insAGA	ENSP00000415555.2:n.78+120_78+121insAGA
ENST00000535044.1:n.323+120_323+121insAGA
ENST00000537237.5:c.78+120_78+121insAGA	ENSP00000445382.1:n.78+120_78+121insAGA
ENST00000539335.5:c.78+120_78+121insAGA	ENSP00000440379.1:n.78+120_78+121insAGA
ENST00000539575.4:c.78+120_78+121insAGA	ENSP00000443551.2:n.78+120_78+121insAGA
ENST00000539696.5:c.-92+1147_-92+1148insAGA	ENSP00000439134.1:n.-92+1147_-92+1148insAGA
ENST00000545774.5:c.78+120_78+121insAGA	ENSP00000443978.1:n.78+120_78+121insAGA
ENST00000546277.5:c.78+120_78+121insAGA	ENSP00000438153.1:n.78+120_78+121insAGA
ENST00000625889.2:c.78+120_78+121insAGA	ENSP00000486846.1:n.78+120_78+121insAGA
ENST00000629016.2:c.78+120_78+121insAGA	ENSP00000486804.1:n.78+120_78+121insAGA
NM_000431.3:c.78+120_78+121insAGA	NP_000422.1:n.78+120_78+121insAGA
NM_001114185.2:c.78+120_78+121insAGA	NP_001107657.1:n.78+120_78+121insAGA
NM_001301182.1:c.78+120_78+121insAGA	NP_001288111.1:n.78+120_78+121insAGA
XM_011538372.1:c.78+120_78+121insAGA	XP_011536674.1:n.78+120_78+121insAGA
XM_017019313.2:c.78+120_78+121insAGA	XP_016874802.1:n.78+120_78+121insAGA
XM_017019314.1:c.78+120_78+121insAGA	XP_016874803.1:n.78+120_78+121insAGA
XM_024448982.1:c.78+120_78+121insAGA	XP_024304750.1:n.78+120_78+121insAGA
NM_000431.4:c.78+120_78+121insAGA MANE Select	NP_000422.1:n.78+120_78+121insAGA
NM_001114185.3:c.78+120_78+121insAGA	NP_001107657.1:n.78+120_78+121insAGA
NM_001301182.2:c.78+120_78+121insAGA	NP_001288111.1:n.78+120_78+121insAGA