Canonical Allele Identifier: CA2573974944

Gene: ASPM

Linked Data

• gnomAD v4: 1-197122264-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197122268dup , CM000663.2:g.197122268dup	GRCh38
NC_000001.10:g.197091398dup , CM000663.1:g.197091398dup	GRCh37
NC_000001.9:g.195358021dup	NCBI36
NG_015867.1:g.29430dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.1677dup
ENST00000367409.9:c.3635dup MANE Select	ENSP00000356379.4:p.Asn1212LysfsTer2
ENST00000680112.1:n.1691dup
ENST00000680265.1:c.3635dup	ENSP00000505384.1:p.Asn1212LysfsTer2
ENST00000680710.1:c.3635dup	ENSP00000506676.1:p.Asn1212LysfsTer2
ENST00000681879.1:c.3635dup	ENSP00000505363.1:p.Asn1212LysfsTer2
ENST00000294732.11:c.3635dup	ENSP00000294732.7:p.Asn1212LysfsTer2
ENST00000367408.5:c.1385dup	ENSP00000356378.1:p.Asn462LysfsTer2
ENST00000367409.8:c.3635dup	ENSP00000356379.4:p.Asn1212LysfsTer2
ENST00000612785.1:c.562-19618dup	ENSP00000479244.1:n.562-19618dup
NM_001206846.1:c.3635dup	NP_001193775.1:p.Asn1212LysfsTer2
NM_018136.4:c.3635dup	NP_060606.3:p.Asn1212LysfsTer2
NM_018136.5:c.3635dup MANE Select	NP_060606.3:p.Asn1212LysfsTer2
NM_001206846.2:c.3635dup	NP_001193775.1:p.Asn1212LysfsTer2