Canonical Allele Identifier: CA1217926625

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197092933_197092935delinsCAA , CM000663.2:g.197092933_197092935delinsCAA	GRCh38
NC_000001.10:g.197062063_197062065delinsCAA , CM000663.1:g.197062063_197062065delinsCAA	GRCh37
NC_000001.9:g.195328686_195328688delinsCAA	NCBI36
NG_015867.1:g.58760_58762delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2581+117_2581+119delinsTTG
ENST00000367409.9:c.9294+117_9294+119delinsTTG MANE Select	ENSP00000356379.4:n.9294+117_9294+119delinsTTG
ENST00000680265.1:c.9516+117_9516+119delinsTTG	ENSP00000505384.1:n.9516+117_9516+119delinsTTG
ENST00000680710.1:c.9294+117_9294+119delinsTTG	ENSP00000506676.1:n.9294+117_9294+119delinsTTG
ENST00000294732.11:c.4539+117_4539+119delinsTTG	ENSP00000294732.7:n.4539+117_4539+119delinsTTG
ENST00000367408.5:c.2289+117_2289+119delinsTTG	ENSP00000356378.1:n.2289+117_2289+119delinsTTG
ENST00000367409.8:c.9294+117_9294+119delinsTTG	ENSP00000356379.4:n.9294+117_9294+119delinsTTG
ENST00000612785.1:c.3252+117_3252+119delinsTTG	ENSP00000479244.1:n.3252+117_3252+119delinsTTG
NM_001206846.1:c.4539+117_4539+119delinsTTG	NP_001193775.1:n.4539+117_4539+119delinsTTG
NM_018136.4:c.9294+117_9294+119delinsTTG	NP_060606.3:n.9294+117_9294+119delinsTTG
NM_018136.5:c.9294+117_9294+119delinsTTG MANE Select	NP_060606.3:n.9294+117_9294+119delinsTTG
NM_001206846.2:c.4539+117_4539+119delinsTTG	NP_001193775.1:n.4539+117_4539+119delinsTTG