Canonical Allele Identifier: CA1217923454

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088239_197088243delinsAACTG , CM000663.2:g.197088239_197088243delinsAACTG	GRCh38
NC_000001.10:g.197057369_197057373delinsAACTG , CM000663.1:g.197057369_197057373delinsAACTG	GRCh37
NC_000001.9:g.195323992_195323996delinsAACTG	NCBI36
NG_015867.1:g.63452_63456delinsCAGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+13_3448+17delinsCAGTT
ENST00000367409.9:c.10161+13_10161+17delinsCAGTT MANE Select	ENSP00000356379.4:n.10161+13_10161+17delinsCAGTT
ENST00000680265.1:c.10383+13_10383+17delinsCAGTT	ENSP00000505384.1:n.10383+13_10383+17delinsCAGTT
ENST00000680710.1:c.10137+13_10137+17delinsCAGTT	ENSP00000506676.1:n.10137+13_10137+17delinsCAGTT
ENST00000294732.11:c.5406+13_5406+17delinsCAGTT	ENSP00000294732.7:n.5406+13_5406+17delinsCAGTT
ENST00000367408.5:c.3156+13_3156+17delinsCAGTT	ENSP00000356378.1:n.3156+13_3156+17delinsCAGTT
ENST00000367409.8:c.10161+13_10161+17delinsCAGTT	ENSP00000356379.4:n.10161+13_10161+17delinsCAGTT
ENST00000612785.1:c.4132_4136delinsCAGTT	ENSP00000479244.1:p.Gln1378=
NM_001206846.1:c.5406+13_5406+17delinsCAGTT	NP_001193775.1:n.5406+13_5406+17delinsCAGTT
NM_018136.4:c.10161+13_10161+17delinsCAGTT	NP_060606.3:n.10161+13_10161+17delinsCAGTT
NM_018136.5:c.10161+13_10161+17delinsCAGTT MANE Select	NP_060606.3:n.10161+13_10161+17delinsCAGTT
NM_001206846.2:c.5406+13_5406+17delinsCAGTT	NP_001193775.1:n.5406+13_5406+17delinsCAGTT