Canonical Allele Identifier: CA2649661693

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102964-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102970_197102972del , CM000663.2:g.197102970_197102972del	GRCh38
NC_000001.10:g.197072100_197072102del , CM000663.1:g.197072100_197072102del	GRCh37
NC_000001.9:g.195338723_195338725del	NCBI36
NG_015867.1:g.48728_48730del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-6803_2108-6801del
ENST00000367409.9:c.6284_6286del MANE Select	ENSP00000356379.4:p.Lys2095del
ENST00000680265.1:c.6284_6286del	ENSP00000505384.1:p.Lys2095del
ENST00000680710.1:c.6284_6286del	ENSP00000506676.1:p.Lys2095del
ENST00000294732.11:c.4066-6803_4066-6801del	ENSP00000294732.7:n.4066-6803_4066-6801de...
ENST00000367408.5:c.1816-6803_1816-6801del	ENSP00000356378.1:n.1816-6803_1816-6801de...
ENST00000367409.8:c.6284_6286del	ENSP00000356379.4:p.Lys2095del
ENST00000612785.1:c.562-320_562-318del	ENSP00000479244.1:n.562-320_562-318del
NM_001206846.1:c.4066-6803_4066-6801del	NP_001193775.1:n.4066-6803_4066-6801del
NM_018136.4:c.6284_6286del	NP_060606.3:p.Lys2095del
NM_018136.5:c.6284_6286del MANE Select	NP_060606.3:p.Lys2095del
NM_001206846.2:c.4066-6803_4066-6801del	NP_001193775.1:n.4066-6803_4066-6801del