Canonical Allele Identifier: CA2575285831

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586200_109586201del , CM000674.2:g.109586200_109586201del	GRCh38
NC_000012.11:g.110024005_110024006del , CM000674.1:g.110024005_110024006del	GRCh37
NC_000012.10:g.108508388_108508389del	NCBI36
NG_007702.1:g.17506_17507del , LRG_156:g.17506_17507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4646_-91-4645del	ENSP00000439134.1:n.-91-4646_-91-4645del
ENST00000546277.6:c.631+75_631+76del	ENSP00000438153.2:n.631+75_631+76del
ENST00000636529.2:n.182+75_182+76del
ENST00000697195.1:c.*395+75_*395+76del	ENSP00000513181.1:n.*395+75_*395+76del
ENST00000697196.1:c.631+75_631+76del	ENSP00000513182.1:n.631+75_631+76del
ENST00000228510.8:c.631+75_631+76del MANE Select	ENSP00000228510.3:n.631+75_631+76del
ENST00000636529.1:c.168+75_168+76del
ENST00000636996.1:c.479+75_479+76del
ENST00000228510.7:c.631+75_631+76del	ENSP00000228510.3:n.631+75_631+76del
ENST00000392727.7:c.475+75_475+76del	ENSP00000376487.3:n.475+75_475+76del
ENST00000447878.6:c.*78+75_*78+76del	ENSP00000415555.2:n.*78+75_*78+76del
ENST00000537237.5:c.*395+75_*395+76del	ENSP00000445382.1:n.*395+75_*395+76del
ENST00000539575.4:c.631+75_631+76del	ENSP00000443551.2:n.631+75_631+76del
ENST00000539696.5:c.-91-4646_-91-4645del	ENSP00000439134.1:n.-91-4646_-91-4645del
ENST00000545516.1:n.176+75_176+76del
ENST00000545774.5:c.*78+75_*78+76del	ENSP00000443978.1:n.*78+75_*78+76del
ENST00000625889.2:c.475+75_475+76del	ENSP00000486846.1:n.475+75_475+76del
ENST00000629016.2:c.*78+75_*78+76del	ENSP00000486804.1:n.*78+75_*78+76del
NM_000431.3:c.631+75_631+76del	NP_000422.1:n.631+75_631+76del
NM_001114185.2:c.631+75_631+76del	NP_001107657.1:n.631+75_631+76del
NM_001301182.1:c.475+75_475+76del	NP_001288111.1:n.475+75_475+76del
XM_011538372.1:c.631+75_631+76del	XP_011536674.1:n.631+75_631+76del
XM_017019313.2:c.475+75_475+76del	XP_016874802.1:n.475+75_475+76del
XM_017019314.1:c.631+75_631+76del	XP_016874803.1:n.631+75_631+76del
XM_024448982.1:c.631+75_631+76del	XP_024304750.1:n.631+75_631+76del
NM_000431.4:c.631+75_631+76del MANE Select	NP_000422.1:n.631+75_631+76del
NM_001114185.3:c.631+75_631+76del	NP_001107657.1:n.631+75_631+76del
NM_001301182.2:c.475+75_475+76del	NP_001288111.1:n.475+75_475+76del