Canonical Allele Identifier: CA2649661167

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093167-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093168del , CM000663.2:g.197093168del	GRCh38
NC_000001.10:g.197062298del , CM000663.1:g.197062298del	GRCh37
NC_000001.9:g.195328921del	NCBI36
NG_015867.1:g.58527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2465del
ENST00000367409.9:c.9178del MANE Select	ENSP00000356379.4:p.Gln3060LysfsTer15
ENST00000680265.1:c.9400del	ENSP00000505384.1:p.Gln3134LysfsTer15
ENST00000680710.1:c.9178del	ENSP00000506676.1:p.Gln3060LysfsTer15
ENST00000294732.11:c.4423del	ENSP00000294732.7:p.Gln1475LysfsTer15
ENST00000367408.5:c.2173del	ENSP00000356378.1:p.Gln725LysfsTer15
ENST00000367409.8:c.9178del	ENSP00000356379.4:p.Gln3060LysfsTer15
ENST00000612785.1:c.3136del	ENSP00000479244.1:p.Gln1046LysfsTer15
NM_001206846.1:c.4423del	NP_001193775.1:p.Gln1475LysfsTer15
NM_018136.4:c.9178del	NP_060606.3:p.Gln3060LysfsTer15
NM_018136.5:c.9178del MANE Select	NP_060606.3:p.Gln3060LysfsTer15
NM_001206846.2:c.4423del	NP_001193775.1:p.Gln1475LysfsTer15