Canonical Allele Identifier: CA2797414072

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586673_109586677del , CM000674.2:g.109586673_109586677del	GRCh38
NC_000012.11:g.110024478_110024482del , CM000674.1:g.110024478_110024482del	GRCh37
NC_000012.10:g.108508861_108508865del	NCBI36
NG_007702.1:g.17979_17983del , LRG_156:g.17979_17983del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4173_-91-4169del	ENSP00000439134.1:n.-91-4173_-91-4169del
ENST00000546277.6:c.632-81_632-77del	ENSP00000438153.2:n.632-81_632-77del
ENST00000636529.2:n.183-81_183-77del
ENST00000697195.1:c.*396-81_*396-77del	ENSP00000513181.1:n.*396-81_*396-77del
ENST00000697196.1:c.632-81_632-77del	ENSP00000513182.1:n.632-81_632-77del
ENST00000228510.8:c.632-81_632-77del MANE Select	ENSP00000228510.3:n.632-81_632-77del
ENST00000636529.1:c.169-81_169-77del
ENST00000636996.1:c.480-81_480-77del
ENST00000228510.7:c.632-81_632-77del	ENSP00000228510.3:n.632-81_632-77del
ENST00000392727.7:c.476-81_476-77del	ENSP00000376487.3:n.476-81_476-77del
ENST00000447878.6:c.*79-81_*79-77del	ENSP00000415555.2:n.*79-81_*79-77del
ENST00000537237.5:c.*396-81_*396-77del	ENSP00000445382.1:n.*396-81_*396-77del
ENST00000539575.4:c.632-81_632-77del	ENSP00000443551.2:n.632-81_632-77del
ENST00000539696.5:c.-91-4173_-91-4169del	ENSP00000439134.1:n.-91-4173_-91-4169del
ENST00000545516.1:n.177-81_177-77del
ENST00000545774.5:c.*79-81_*79-77del	ENSP00000443978.1:n.*79-81_*79-77del
ENST00000625889.2:c.476-81_476-77del	ENSP00000486846.1:n.476-81_476-77del
ENST00000629016.2:c.*79-81_*79-77del	ENSP00000486804.1:n.*79-81_*79-77del
NM_000431.3:c.632-81_632-77del	NP_000422.1:n.632-81_632-77del
NM_001114185.2:c.632-81_632-77del	NP_001107657.1:n.632-81_632-77del
NM_001301182.1:c.476-81_476-77del	NP_001288111.1:n.476-81_476-77del
XM_011538372.1:c.632-81_632-77del	XP_011536674.1:n.632-81_632-77del
XM_017019313.2:c.476-81_476-77del	XP_016874802.1:n.476-81_476-77del
XM_017019314.1:c.632-81_632-77del	XP_016874803.1:n.632-81_632-77del
XM_024448982.1:c.632-81_632-77del	XP_024304750.1:n.632-81_632-77del
NM_000431.4:c.632-81_632-77del MANE Select	NP_000422.1:n.632-81_632-77del
NM_001114185.3:c.632-81_632-77del	NP_001107657.1:n.632-81_632-77del
NM_001301182.2:c.476-81_476-77del	NP_001288111.1:n.476-81_476-77del