Canonical Allele Identifier: CA2649661166

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093082-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093083del , CM000663.2:g.197093083del	GRCh38
NC_000001.10:g.197062213del , CM000663.1:g.197062213del	GRCh37
NC_000001.9:g.195328836del	NCBI36
NG_015867.1:g.58612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2550del
ENST00000367409.9:c.9263del MANE Select	ENSP00000356379.4:p.Ala3088AspfsTer7
ENST00000680265.1:c.9485del	ENSP00000505384.1:p.Ala3162AspfsTer7
ENST00000680710.1:c.9263del	ENSP00000506676.1:p.Ala3088AspfsTer7
ENST00000294732.11:c.4508del	ENSP00000294732.7:p.Ala1503AspfsTer7
ENST00000367408.5:c.2258del	ENSP00000356378.1:p.Ala753AspfsTer7
ENST00000367409.8:c.9263del	ENSP00000356379.4:p.Ala3088AspfsTer7
ENST00000612785.1:c.3221del	ENSP00000479244.1:p.Ala1074AspfsTer7
NM_001206846.1:c.4508del	NP_001193775.1:p.Ala1503AspfsTer7
NM_018136.4:c.9263del	NP_060606.3:p.Ala3088AspfsTer7
NM_018136.5:c.9263del MANE Select	NP_060606.3:p.Ala3088AspfsTer7
NM_001206846.2:c.4508del	NP_001193775.1:p.Ala1503AspfsTer7