Canonical Allele Identifier: CA1010897599

Gene: ASPM

Linked Data

• dbSNP Id: rs1656673118
• gnomAD v3: 1-197088579-TAG-T
• gnomAD v4: 1-197088579-TAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088580_197088581del , CM000663.2:g.197088580_197088581del	GRCh38
NC_000001.10:g.197057710_197057711del , CM000663.1:g.197057710_197057711del	GRCh37
NC_000001.9:g.195324333_195324334del	NCBI36
NG_015867.1:g.63114_63115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-149_3272-148del
ENST00000367409.9:c.9985-149_9985-148del MANE Select	ENSP00000356379.4:n.9985-149_9985-148del
ENST00000680265.1:c.10207-149_10207-148del	ENSP00000505384.1:n.10207-149_10207-148del
ENST00000680710.1:c.9961-149_9961-148del	ENSP00000506676.1:n.9961-149_9961-148del
ENST00000294732.11:c.5230-149_5230-148del	ENSP00000294732.7:n.5230-149_5230-148del
ENST00000367408.5:c.2980-149_2980-148del	ENSP00000356378.1:n.2980-149_2980-148del
ENST00000367409.8:c.9985-149_9985-148del	ENSP00000356379.4:n.9985-149_9985-148del
ENST00000612785.1:c.3943-149_3943-148del	ENSP00000479244.1:n.3943-149_3943-148del
NM_001206846.1:c.5230-149_5230-148del	NP_001193775.1:n.5230-149_5230-148del
NM_018136.4:c.9985-149_9985-148del	NP_060606.3:n.9985-149_9985-148del
NM_018136.5:c.9985-149_9985-148del MANE Select	NP_060606.3:n.9985-149_9985-148del
NM_001206846.2:c.5230-149_5230-148del	NP_001193775.1:n.5230-149_5230-148del