Canonical Allele Identifier: CA2649661692

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102963-TGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102964_197102966del , CM000663.2:g.197102964_197102966del	GRCh38
NC_000001.10:g.197072094_197072096del , CM000663.1:g.197072094_197072096del	GRCh37
NC_000001.9:g.195338717_195338719del	NCBI36
NG_015867.1:g.48729_48731del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6802_2108-6800del
ENST00000367409.9:c.6285_6287del MANE Select	ENSP00000356379.4:p.Thr2096del
ENST00000680265.1:c.6285_6287del	ENSP00000505384.1:p.Thr2096del
ENST00000680710.1:c.6285_6287del	ENSP00000506676.1:p.Thr2096del
ENST00000294732.11:c.4066-6802_4066-6800del	ENSP00000294732.7:n.4066-6802_4066-6800del
ENST00000367408.5:c.1816-6802_1816-6800del	ENSP00000356378.1:n.1816-6802_1816-6800del
ENST00000367409.8:c.6285_6287del	ENSP00000356379.4:p.Thr2096del
ENST00000612785.1:c.562-319_562-317del	ENSP00000479244.1:n.562-319_562-317del
NM_001206846.1:c.4066-6802_4066-6800del	NP_001193775.1:n.4066-6802_4066-6800del
NM_018136.4:c.6285_6287del	NP_060606.3:p.Thr2096del
NM_018136.5:c.6285_6287del MANE Select	NP_060606.3:p.Thr2096del
NM_001206846.2:c.4066-6802_4066-6800del	NP_001193775.1:n.4066-6802_4066-6800del