Canonical Allele Identifier: CA2649661169

Gene: ASPM

Linked Data

• gnomAD v4: 1-197093195-GAAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093200_197093203del , CM000663.2:g.197093200_197093203del	GRCh38
NC_000001.10:g.197062330_197062333del , CM000663.1:g.197062330_197062333del	GRCh37
NC_000001.9:g.195328953_195328956del	NCBI36
NG_015867.1:g.58496_58499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2434_2437del
ENST00000367409.9:c.9147_9150del MANE Select	ENSP00000356379.4:p.Leu3050GlyfsTer7
ENST00000680265.1:c.9369_9372del	ENSP00000505384.1:p.Leu3124GlyfsTer7
ENST00000680710.1:c.9147_9150del	ENSP00000506676.1:p.Leu3050GlyfsTer7
ENST00000294732.11:c.4392_4395del	ENSP00000294732.7:p.Leu1465GlyfsTer7
ENST00000367408.5:c.2142_2145del	ENSP00000356378.1:p.Leu715GlyfsTer7
ENST00000367409.8:c.9147_9150del	ENSP00000356379.4:p.Leu3050GlyfsTer7
ENST00000612785.1:c.3105_3108del	ENSP00000479244.1:p.Leu1036GlyfsTer7
NM_001206846.1:c.4392_4395del	NP_001193775.1:p.Leu1465GlyfsTer7
NM_018136.4:c.9147_9150del	NP_060606.3:p.Leu3050GlyfsTer7
NM_018136.5:c.9147_9150del MANE Select	NP_060606.3:p.Leu3050GlyfsTer7
NM_001206846.2:c.4392_4395del	NP_001193775.1:p.Leu1465GlyfsTer7