Canonical Allele Identifier: CA2620813743

Gene: MVK

Linked Data

• gnomAD v4: 12-109576190-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109576191del , CM000674.2:g.109576191del	GRCh38
NC_000012.11:g.110013996del , CM000674.1:g.110013996del	GRCh37
NC_000012.10:g.108498379del	NCBI36
NG_007096.1:g.2307del
NG_007702.1:g.7497del , LRG_156:g.7497del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+2318del	ENSP00000439134.1:n.-92+2318del
ENST00000546277.6:c.226+46del	ENSP00000438153.2:n.226+46del
ENST00000636529.2:n.78+1291del
ENST00000697195.1:c.226+46del	ENSP00000513181.1:n.226+46del
ENST00000697196.1:c.226+46del	ENSP00000513182.1:n.226+46del
ENST00000228510.8:c.226+46del MANE Select	ENSP00000228510.3:n.226+46del
ENST00000636529.1:c.64+1291del
ENST00000636996.1:c.219+46del
ENST00000639206.1:c.226+46del	ENSP00000492778.1:n.226+46del
ENST00000228510.7:c.226+46del	ENSP00000228510.3:n.226+46del
ENST00000392727.7:c.226+46del	ENSP00000376487.3:n.226+46del
ENST00000447878.6:c.226+46del	ENSP00000415555.2:n.226+46del
ENST00000535044.1:n.471+46del
ENST00000537237.5:c.226+46del	ENSP00000445382.1:n.226+46del
ENST00000539335.5:c.226+46del	ENSP00000440379.1:n.226+46del
ENST00000539575.4:c.226+46del	ENSP00000443551.2:n.226+46del
ENST00000539696.5:c.-92+2318del	ENSP00000439134.1:n.-92+2318del
ENST00000545774.5:c.226+46del	ENSP00000443978.1:n.226+46del
ENST00000546277.5:c.226+46del	ENSP00000438153.1:n.226+46del
ENST00000625889.2:c.226+46del	ENSP00000486846.1:n.226+46del
ENST00000629016.2:c.226+46del	ENSP00000486804.1:n.226+46del
NM_000431.3:c.226+46del	NP_000422.1:n.226+46del
NM_001114185.2:c.226+46del	NP_001107657.1:n.226+46del
NM_001301182.1:c.226+46del	NP_001288111.1:n.226+46del
XM_011538372.1:c.226+46del	XP_011536674.1:n.226+46del
XM_017019313.2:c.226+46del	XP_016874802.1:n.226+46del
XM_017019314.1:c.226+46del	XP_016874803.1:n.226+46del
XM_024448982.1:c.226+46del	XP_024304750.1:n.226+46del
NM_000431.4:c.226+46del MANE Select	NP_000422.1:n.226+46del
NM_001114185.3:c.226+46del	NP_001107657.1:n.226+46del
NM_001301182.2:c.226+46del	NP_001288111.1:n.226+46del