Canonical Allele Identifier: CA1310854

Gene: ASPM

Linked Data

• dbSNP Id: rs748331272
• ExAC: 1:197112812 GCTC / G
• gnomAD v2: 1-197112812-GCTC-G
• gnomAD v3: 1-197143682-GCTC-G
• gnomAD v4: 1-197143682-GCTC-G
• MyVariant Identifiers: chr1:g.197112813_197112815del (hg19) ; chr1:g.197143683_197143685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143685_197143687del , CM000663.2:g.197143685_197143687del	GRCh38
NC_000001.10:g.197112815_197112817del , CM000663.1:g.197112815_197112817del	GRCh37
NC_000001.9:g.195379438_195379440del	NCBI36
NG_015867.1:g.8010_8012del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367409.9:c.567_569del MANE Select	ENSP00000356379.4:p.Arg189del
ENST00000679766.1:n.784_786del
ENST00000680265.1:c.567_569del	ENSP00000505384.1:p.Arg189del
ENST00000680710.1:c.567_569del	ENSP00000506676.1:p.Arg189del
ENST00000681879.1:c.567_569del	ENSP00000505363.1:p.Arg189del
ENST00000294732.11:c.567_569del	ENSP00000294732.7:p.Arg189del
ENST00000367409.8:c.567_569del	ENSP00000356379.4:p.Arg189del
ENST00000612785.1:c.561+6_561+8del	ENSP00000479244.1:n.561+6_561+8del
NM_001206846.1:c.567_569del	NP_001193775.1:p.Arg189del
NM_018136.4:c.567_569del	NP_060606.3:p.Arg189del
NM_018136.5:c.567_569del MANE Select	NP_060606.3:p.Arg189del
NM_001206846.2:c.567_569del	NP_001193775.1:p.Arg189del