Canonical Allele Identifier: CA2620818477

Gene: MVK

Linked Data

• gnomAD v4: 12-109591227-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591234del , CM000674.2:g.109591234del	GRCh38
NC_000012.11:g.110029039del , CM000674.1:g.110029039del	GRCh37
NC_000012.10:g.108513422del	NCBI36
NG_007702.1:g.22540del , LRG_156:g.22540del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-75-7del	ENSP00000439134.1:n.-75-7del
ENST00000546277.6:c.769-7del	ENSP00000438153.2:n.769-7del
ENST00000636529.2:n.408-7del
ENST00000697195.1:c.*533-7del	ENSP00000513181.1:n.*533-7del
ENST00000697196.1:c.857-7del	ENSP00000513182.1:n.857-7del
ENST00000697197.1:n.2791del
ENST00000228510.8:c.769-7del MANE Select	ENSP00000228510.3:n.769-7del
ENST00000636529.1:c.394-7del
ENST00000636996.1:c.617-7del
ENST00000228510.7:c.769-7del	ENSP00000228510.3:n.769-7del
ENST00000392727.7:c.613-7del	ENSP00000376487.3:n.613-7del
ENST00000447878.6:c.*216-7del	ENSP00000415555.2:n.*216-7del
ENST00000537237.5:c.*442-7del	ENSP00000445382.1:n.*442-7del
ENST00000539575.4:c.769-7del	ENSP00000443551.2:n.769-7del
ENST00000539696.5:c.-75-7del	ENSP00000439134.1:n.-75-7del
ENST00000540353.1:n.3002-7del
ENST00000625889.2:c.613-7del	ENSP00000486846.1:n.613-7del
ENST00000629016.2:c.*216-7del	ENSP00000486804.1:n.*216-7del
NM_000431.3:c.769-7del	NP_000422.1:n.769-7del
NM_001114185.2:c.769-7del	NP_001107657.1:n.769-7del
NM_001301182.1:c.613-7del	NP_001288111.1:n.613-7del
XM_011538372.1:c.769-7del	XP_011536674.1:n.769-7del
XM_017019313.2:c.613-7del	XP_016874802.1:n.613-7del
XM_017019314.1:c.769-7del	XP_016874803.1:n.769-7del
XM_024448982.1:c.769-7del	XP_024304750.1:n.769-7del
NM_000431.4:c.769-7del MANE Select	NP_000422.1:n.769-7del
NM_001114185.3:c.769-7del	NP_001107657.1:n.769-7del
NM_001301182.2:c.613-7del	NP_001288111.1:n.613-7del