Canonical Allele Identifier: CA2062472545

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595080_109595082delinsCCT , CM000674.2:g.109595080_109595082delinsCCT	GRCh38
NC_000012.11:g.110032885_110032887delinsCCT , CM000674.1:g.110032885_110032887delinsCCT	GRCh37
NC_000012.10:g.108517268_108517270delinsCCT	NCBI36
NG_007702.1:g.26386_26388delinsCCT , LRG_156:g.26386_26388delinsCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.95_97delinsCCT	ENSP00000439134.1:p.Ala32=
ENST00000546277.6:c.938_940delinsCCT	ENSP00000438153.2:p.Ala313=
ENST00000636529.2:n.577_579delinsCCT
ENST00000697195.1:c.*702_*704delinsCCT	ENSP00000513181.1:n.*702_*704delinsCCT
ENST00000697196.1:c.*111_*113delinsCCT	ENSP00000513182.1:n.*111_*113delinsCCT
ENST00000697197.1:n.2967_2969delinsCCT
ENST00000697198.1:n.1322_1324delinsCCT
ENST00000228510.8:c.938_940delinsCCT MANE Select	ENSP00000228510.3:p.Ala313=
ENST00000636529.1:c.563_565delinsCCT
ENST00000636996.1:c.786_788delinsCCT
ENST00000228510.7:c.938_940delinsCCT	ENSP00000228510.3:p.Ala313=
ENST00000392727.7:c.782_784delinsCCT	ENSP00000376487.3:p.Ala261=
ENST00000447878.6:c.*385_*387delinsCCT	ENSP00000415555.2:n.*385_*387delinsCCT
ENST00000537237.5:c.*611_*613delinsCCT	ENSP00000445382.1:n.*611_*613delinsCCT
ENST00000539575.4:c.938_940delinsCCT	ENSP00000443551.2:p.Ala313=
ENST00000539696.5:c.95_97delinsCCT	ENSP00000439134.1:p.Ala32=
ENST00000540353.1:n.3171_3173delinsCCT
ENST00000625889.2:c.782_784delinsCCT	ENSP00000486846.1:p.Ala261=
ENST00000629016.2:c.*385_*387delinsCCT	ENSP00000486804.1:n.*385_*387delinsCCT
NM_000431.3:c.938_940delinsCCT	NP_000422.1:p.Ala313=
NM_001114185.2:c.938_940delinsCCT	NP_001107657.1:p.Ala313=
NM_001301182.1:c.782_784delinsCCT	NP_001288111.1:p.Ala261=
XM_011538372.1:c.938_940delinsCCT	XP_011536674.1:p.Ala313=
XM_017019313.2:c.782_784delinsCCT	XP_016874802.1:p.Ala261=
XM_017019314.1:c.938_940delinsCCT	XP_016874803.1:p.Ala313=
NM_000431.4:c.938_940delinsCCT MANE Select	NP_000422.1:p.Ala313=
NM_001114185.3:c.938_940delinsCCT	NP_001107657.1:p.Ala313=
NM_001301182.2:c.782_784delinsCCT	NP_001288111.1:p.Ala261=