Canonical Allele Identifier: CA2062464947

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581359_109581360delinsCG , CM000674.2:g.109581359_109581360delinsCG	GRCh38
NC_000012.11:g.110019164_110019165delinsCG , CM000674.1:g.110019164_110019165delinsCG	GRCh37
NC_000012.10:g.108503547_108503548delinsCG	NCBI36
NG_007702.1:g.12665_12666delinsCG , LRG_156:g.12665_12666delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+7486_-92+7487delinsCG	ENSP00000439134.1:n.-92+7486_-92+7487deli...
ENST00000546277.6:c.372-36_372-35delinsCG	ENSP00000438153.2:n.372-36_372-35delinsCG...
ENST00000636529.2:n.79-4663_79-4662delinsCG
ENST00000697195.1:c.*136-36_*136-35delinsCG	ENSP00000513181.1:n.*136-36_*136-35delins...
ENST00000697196.1:c.372-36_372-35delinsCG	ENSP00000513182.1:n.372-36_372-35delinsCG...
ENST00000228510.8:c.372-36_372-35delinsCG MANE Select	ENSP00000228510.3:n.372-36_372-35delinsCG...
ENST00000636529.1:c.65-4663_65-4662delinsCG
ENST00000636996.1:c.220-36_220-35delinsCG
ENST00000228510.7:c.372-36_372-35delinsCG	ENSP00000228510.3:n.372-36_372-35delinsCG...
ENST00000392727.7:c.371+1413_371+1414delinsCG	ENSP00000376487.3:n.371+1413_371+1414deli...
ENST00000447878.6:c.227-4663_227-4662delinsCG	ENSP00000415555.2:n.227-4663_227-4662deli...
ENST00000535044.1:n.472-4663_472-4662delinsCG
ENST00000537237.5:c.*136-36_*136-35delinsCG	ENSP00000445382.1:n.*136-36_*136-35delins...
ENST00000539335.5:c.372-36_372-35delinsCG	ENSP00000440379.1:n.372-36_372-35delinsCG...
ENST00000539575.4:c.372-36_372-35delinsCG	ENSP00000443551.2:n.372-36_372-35delinsCG...
ENST00000539696.5:c.-92+7486_-92+7487delinsCG	ENSP00000439134.1:n.-92+7486_-92+7487deli...
ENST00000545774.5:c.227-4663_227-4662delinsCG	ENSP00000443978.1:n.227-4663_227-4662deli...
ENST00000546277.5:c.372-36_372-35delinsCG	ENSP00000438153.1:n.372-36_372-35delinsCG...
ENST00000625889.2:c.371+1413_371+1414delinsCG	ENSP00000486846.1:n.371+1413_371+1414deli...
ENST00000629016.2:c.227-4663_227-4662delinsCG	ENSP00000486804.1:n.227-4663_227-4662deli...
NM_000431.3:c.372-36_372-35delinsCG	NP_000422.1:n.372-36_372-35delinsCG
NM_001114185.2:c.372-36_372-35delinsCG	NP_001107657.1:n.372-36_372-35delinsCG
NM_001301182.1:c.371+1413_371+1414delinsCG	NP_001288111.1:n.371+1413_371+1414delinsC...
XM_011538372.1:c.372-36_372-35delinsCG	XP_011536674.1:n.372-36_372-35delinsCG
XM_017019313.2:c.371+1413_371+1414delinsCG	XP_016874802.1:n.371+1413_371+1414delinsC...
XM_017019314.1:c.372-36_372-35delinsCG	XP_016874803.1:n.372-36_372-35delinsCG
XM_024448982.1:c.372-36_372-35delinsCG	XP_024304750.1:n.372-36_372-35delinsCG
NM_000431.4:c.372-36_372-35delinsCG MANE Select	NP_000422.1:n.372-36_372-35delinsCG
NM_001114185.3:c.372-36_372-35delinsCG	NP_001107657.1:n.372-36_372-35delinsCG
NM_001301182.2:c.371+1413_371+1414delinsCG	NP_001288111.1:n.371+1413_371+1414delinsC...