Canonical Allele Identifier: CA2575285871

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590868del , CM000674.2:g.109590868del	GRCh38
NC_000012.11:g.110028673del , CM000674.1:g.110028673del	GRCh37
NC_000012.10:g.108513056del	NCBI36
NG_007702.1:g.22174del , LRG_156:g.22174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-76+7del	ENSP00000439134.1:n.-76+7del
ENST00000546277.6:c.768+7del	ENSP00000438153.2:n.768+7del
ENST00000636529.2:n.407+7del
ENST00000697195.1:c.*532+7del	ENSP00000513181.1:n.*532+7del
ENST00000697196.1:c.856+7del	ENSP00000513182.1:n.856+7del
ENST00000697197.1:n.2425del
ENST00000228510.8:c.768+7del MANE Select	ENSP00000228510.3:n.768+7del
ENST00000636529.1:c.393+7del
ENST00000636996.1:c.616+7del
ENST00000228510.7:c.768+7del	ENSP00000228510.3:n.768+7del
ENST00000392727.7:c.612+7del	ENSP00000376487.3:n.612+7del
ENST00000447878.6:c.*215+7del	ENSP00000415555.2:n.*215+7del
ENST00000537237.5:c.*442-373del	ENSP00000445382.1:n.*442-373del
ENST00000539575.4:c.768+7del	ENSP00000443551.2:n.768+7del
ENST00000539696.5:c.-76+7del	ENSP00000439134.1:n.-76+7del
ENST00000540353.1:n.3001+7del
ENST00000625889.2:c.612+7del	ENSP00000486846.1:n.612+7del
ENST00000629016.2:c.*215+7del	ENSP00000486804.1:n.*215+7del
NM_000431.3:c.768+7del	NP_000422.1:n.768+7del
NM_001114185.2:c.768+7del	NP_001107657.1:n.768+7del
NM_001301182.1:c.612+7del	NP_001288111.1:n.612+7del
XM_011538372.1:c.768+7del	XP_011536674.1:n.768+7del
XM_017019313.2:c.612+7del	XP_016874802.1:n.612+7del
XM_017019314.1:c.768+7del	XP_016874803.1:n.768+7del
XM_024448982.1:c.768+7del	XP_024304750.1:n.768+7del
NM_000431.4:c.768+7del MANE Select	NP_000422.1:n.768+7del
NM_001114185.3:c.768+7del	NP_001107657.1:n.768+7del
NM_001301182.2:c.612+7del	NP_001288111.1:n.612+7del