Canonical Allele Identifier: CA2797413967

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586235_109586242del , CM000674.2:g.109586235_109586242del	GRCh38
NC_000012.11:g.110024040_110024047del , CM000674.1:g.110024040_110024047del	GRCh37
NC_000012.10:g.108508423_108508430del	NCBI36
NG_007702.1:g.17541_17548del , LRG_156:g.17541_17548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4611_-91-4604del	ENSP00000439134.1:n.-91-4611_-91-4604del
ENST00000546277.6:c.631+110_631+117del	ENSP00000438153.2:n.631+110_631+117del
ENST00000636529.2:n.182+110_182+117del
ENST00000697195.1:c.*395+110_*395+117del	ENSP00000513181.1:n.*395+110_*395+117del
ENST00000697196.1:c.631+110_631+117del	ENSP00000513182.1:n.631+110_631+117del
ENST00000228510.8:c.631+110_631+117del MANE Select	ENSP00000228510.3:n.631+110_631+117del
ENST00000636529.1:c.168+110_168+117del
ENST00000636996.1:c.479+110_479+117del
ENST00000228510.7:c.631+110_631+117del	ENSP00000228510.3:n.631+110_631+117del
ENST00000392727.7:c.475+110_475+117del	ENSP00000376487.3:n.475+110_475+117del
ENST00000447878.6:c.*78+110_*78+117del	ENSP00000415555.2:n.*78+110_*78+117del
ENST00000537237.5:c.*395+110_*395+117del	ENSP00000445382.1:n.*395+110_*395+117del
ENST00000539575.4:c.631+110_631+117del	ENSP00000443551.2:n.631+110_631+117del
ENST00000539696.5:c.-91-4611_-91-4604del	ENSP00000439134.1:n.-91-4611_-91-4604del
ENST00000545516.1:n.176+110_176+117del
ENST00000545774.5:c.*78+110_*78+117del	ENSP00000443978.1:n.*78+110_*78+117del
ENST00000625889.2:c.475+110_475+117del	ENSP00000486846.1:n.475+110_475+117del
ENST00000629016.2:c.*78+110_*78+117del	ENSP00000486804.1:n.*78+110_*78+117del
NM_000431.3:c.631+110_631+117del	NP_000422.1:n.631+110_631+117del
NM_001114185.2:c.631+110_631+117del	NP_001107657.1:n.631+110_631+117del
NM_001301182.1:c.475+110_475+117del	NP_001288111.1:n.475+110_475+117del
XM_011538372.1:c.631+110_631+117del	XP_011536674.1:n.631+110_631+117del
XM_017019313.2:c.475+110_475+117del	XP_016874802.1:n.475+110_475+117del
XM_017019314.1:c.631+110_631+117del	XP_016874803.1:n.631+110_631+117del
XM_024448982.1:c.631+110_631+117del	XP_024304750.1:n.631+110_631+117del
NM_000431.4:c.631+110_631+117del MANE Select	NP_000422.1:n.631+110_631+117del
NM_001114185.3:c.631+110_631+117del	NP_001107657.1:n.631+110_631+117del
NM_001301182.2:c.475+110_475+117del	NP_001288111.1:n.475+110_475+117del