Canonical Allele Identifier: CA2649664370

Gene: ASPM

Linked Data

• gnomAD v4: 1-197143952-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143954del , CM000663.2:g.197143954del	GRCh38
NC_000001.10:g.197113084del , CM000663.1:g.197113084del	GRCh37
NC_000001.9:g.195379707del	NCBI36
NG_015867.1:g.7742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.441+4del MANE Select	ENSP00000356379.4:n.441+4del
ENST00000679766.1:n.658+4del
ENST00000680265.1:c.441+4del	ENSP00000505384.1:n.441+4del
ENST00000680710.1:c.441+4del	ENSP00000506676.1:n.441+4del
ENST00000681879.1:c.441+4del	ENSP00000505363.1:n.441+4del
ENST00000294732.11:c.441+4del	ENSP00000294732.7:n.441+4del
ENST00000367409.8:c.441+4del	ENSP00000356379.4:n.441+4del
ENST00000612785.1:c.441+4del	ENSP00000479244.1:n.441+4del
NM_001206846.1:c.441+4del	NP_001193775.1:n.441+4del
NM_018136.4:c.441+4del	NP_060606.3:n.441+4del
NM_018136.5:c.441+4del MANE Select	NP_060606.3:n.441+4del
NM_001206846.2:c.441+4del	NP_001193775.1:n.441+4del