Canonical Allele Identifier: CA2554273856

Gene: ASPM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104271del , CM000663.2:g.197104271del	GRCh38
NC_000001.10:g.197073401del , CM000663.1:g.197073401del	GRCh37
NC_000001.9:g.195340024del	NCBI36
NG_015867.1:g.47426del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8105del
ENST00000367409.9:c.4982del MANE Select	ENSP00000356379.4:p.Lys1661ArgfsTer16
ENST00000680265.1:c.4982del	ENSP00000505384.1:p.Lys1661ArgfsTer16
ENST00000680710.1:c.4982del	ENSP00000506676.1:p.Lys1661ArgfsTer16
ENST00000294732.11:c.4066-8105del	ENSP00000294732.7:n.4066-8105del
ENST00000367408.5:c.1816-8105del	ENSP00000356378.1:n.1816-8105del
ENST00000367409.8:c.4982del	ENSP00000356379.4:p.Lys1661ArgfsTer16
ENST00000612785.1:c.562-1622del	ENSP00000479244.1:n.562-1622del
NM_001206846.1:c.4066-8105del	NP_001193775.1:n.4066-8105del
NM_018136.4:c.4982del	NP_060606.3:p.Lys1661ArgfsTer16
NM_018136.5:c.4982del MANE Select	NP_060606.3:p.Lys1661ArgfsTer16
NM_001206846.2:c.4066-8105del	NP_001193775.1:n.4066-8105del