Canonical Allele Identifier: CA2797413918

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586191_109586196del , CM000674.2:g.109586191_109586196del	GRCh38
NC_000012.11:g.110023996_110024001del , CM000674.1:g.110023996_110024001del	GRCh37
NC_000012.10:g.108508379_108508384del	NCBI36
NG_007702.1:g.17497_17502del , LRG_156:g.17497_17502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4655_-91-4650del	ENSP00000439134.1:n.-91-4655_-91-4650del
ENST00000546277.6:c.631+66_631+71del	ENSP00000438153.2:n.631+66_631+71del
ENST00000636529.2:n.182+66_182+71del
ENST00000697195.1:c.*395+66_*395+71del	ENSP00000513181.1:n.*395+66_*395+71del
ENST00000697196.1:c.631+66_631+71del	ENSP00000513182.1:n.631+66_631+71del
ENST00000228510.8:c.631+66_631+71del MANE Select	ENSP00000228510.3:n.631+66_631+71del
ENST00000636529.1:c.168+66_168+71del
ENST00000636996.1:c.479+66_479+71del
ENST00000228510.7:c.631+66_631+71del	ENSP00000228510.3:n.631+66_631+71del
ENST00000392727.7:c.475+66_475+71del	ENSP00000376487.3:n.475+66_475+71del
ENST00000447878.6:c.*78+66_*78+71del	ENSP00000415555.2:n.*78+66_*78+71del
ENST00000537237.5:c.*395+66_*395+71del	ENSP00000445382.1:n.*395+66_*395+71del
ENST00000539575.4:c.631+66_631+71del	ENSP00000443551.2:n.631+66_631+71del
ENST00000539696.5:c.-91-4655_-91-4650del	ENSP00000439134.1:n.-91-4655_-91-4650del
ENST00000545516.1:n.176+66_176+71del
ENST00000545774.5:c.*78+66_*78+71del	ENSP00000443978.1:n.*78+66_*78+71del
ENST00000625889.2:c.475+66_475+71del	ENSP00000486846.1:n.475+66_475+71del
ENST00000629016.2:c.*78+66_*78+71del	ENSP00000486804.1:n.*78+66_*78+71del
NM_000431.3:c.631+66_631+71del	NP_000422.1:n.631+66_631+71del
NM_001114185.2:c.631+66_631+71del	NP_001107657.1:n.631+66_631+71del
NM_001301182.1:c.475+66_475+71del	NP_001288111.1:n.475+66_475+71del
XM_011538372.1:c.631+66_631+71del	XP_011536674.1:n.631+66_631+71del
XM_017019313.2:c.475+66_475+71del	XP_016874802.1:n.475+66_475+71del
XM_017019314.1:c.631+66_631+71del	XP_016874803.1:n.631+66_631+71del
XM_024448982.1:c.631+66_631+71del	XP_024304750.1:n.631+66_631+71del
NM_000431.4:c.631+66_631+71del MANE Select	NP_000422.1:n.631+66_631+71del
NM_001114185.3:c.631+66_631+71del	NP_001107657.1:n.631+66_631+71del
NM_001301182.2:c.475+66_475+71del	NP_001288111.1:n.475+66_475+71del