Canonical Allele Identifier: CA1217923315

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088080_197088084delinsCAGAA , CM000663.2:g.197088080_197088084delinsCAGAA	GRCh38
NC_000001.10:g.197057210_197057214delinsCAGAA , CM000663.1:g.197057210_197057214delinsCAGAA	GRCh37
NC_000001.9:g.195323833_195323837delinsCAGAA	NCBI36
NG_015867.1:g.63611_63615delinsTTCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3448+172_3448+176delinsTTCTG
ENST00000367409.9:c.10161+172_10161+176delinsTTCTG MANE Select	ENSP00000356379.4:n.10161+172_10161+176delinsTTCTG
ENST00000680265.1:c.10383+172_10383+176delinsTTCTG	ENSP00000505384.1:n.10383+172_10383+176delinsTTCTG
ENST00000680710.1:c.10137+172_10137+176delinsTTCTG	ENSP00000506676.1:n.10137+172_10137+176delinsTTCTG
ENST00000294732.11:c.5406+172_5406+176delinsTTCTG	ENSP00000294732.7:n.5406+172_5406+176delinsTTCTG
ENST00000367408.5:c.3156+172_3156+176delinsTTCTG	ENSP00000356378.1:n.3156+172_3156+176delinsTTCTG
ENST00000367409.8:c.10161+172_10161+176delinsTTCTG	ENSP00000356379.4:n.10161+172_10161+176delinsTTCTG
NM_001206846.1:c.5406+172_5406+176delinsTTCTG	NP_001193775.1:n.5406+172_5406+176delinsTTCTG
NM_018136.4:c.10161+172_10161+176delinsTTCTG	NP_060606.3:n.10161+172_10161+176delinsTTCTG
NM_018136.5:c.10161+172_10161+176delinsTTCTG MANE Select	NP_060606.3:n.10161+172_10161+176delinsTTCTG
NM_001206846.2:c.5406+172_5406+176delinsTTCTG	NP_001193775.1:n.5406+172_5406+176delinsTTCTG