Canonical Allele Identifier: CA2649664221

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143435-CATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143437_197143439del , CM000663.2:g.197143437_197143439del	GRCh38
NC_000001.10:g.197112567_197112569del , CM000663.1:g.197112567_197112569del	GRCh37
NC_000001.9:g.195379190_195379192del	NCBI36
NG_015867.1:g.8257_8259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.814_816del MANE Select	ENSP00000356379.4:p.Asn272del
ENST00000679766.1:n.1031_1033del
ENST00000680265.1:c.814_816del	ENSP00000505384.1:p.Asn272del
ENST00000680710.1:c.814_816del	ENSP00000506676.1:p.Asn272del
ENST00000681879.1:c.814_816del	ENSP00000505363.1:p.Asn272del
ENST00000294732.11:c.814_816del	ENSP00000294732.7:p.Asn272del
ENST00000367409.8:c.814_816del	ENSP00000356379.4:p.Asn272del
ENST00000612785.1:c.561+253_561+255del	ENSP00000479244.1:n.561+253_561+255del
NM_001206846.1:c.814_816del	NP_001193775.1:p.Asn272del
NM_018136.4:c.814_816del	NP_060606.3:p.Asn272del
NM_018136.5:c.814_816del MANE Select	NP_060606.3:p.Asn272del
NM_001206846.2:c.814_816del	NP_001193775.1:p.Asn272del