Canonical Allele Identifier: CA2649661675

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102598-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102602_197102603del , CM000663.2:g.197102602_197102603del	GRCh38
NC_000001.10:g.197071732_197071733del , CM000663.1:g.197071732_197071733del	GRCh37
NC_000001.9:g.195338355_195338356del	NCBI36
NG_015867.1:g.49095_49096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6436_2108-6435del
ENST00000367409.9:c.6651_6652del MANE Select	ENSP00000356379.4:p.Lys2217AsnfsTer20
ENST00000680265.1:c.6651_6652del	ENSP00000505384.1:p.Lys2217AsnfsTer20
ENST00000680710.1:c.6651_6652del	ENSP00000506676.1:p.Lys2217AsnfsTer20
ENST00000294732.11:c.4066-6436_4066-6435del	ENSP00000294732.7:n.4066-6436_4066-6435del
ENST00000367408.5:c.1816-6436_1816-6435del	ENSP00000356378.1:n.1816-6436_1816-6435del
ENST00000367409.8:c.6651_6652del	ENSP00000356379.4:p.Lys2217AsnfsTer20
ENST00000612785.1:c.609_610del	ENSP00000479244.1:p.Lys203AsnfsTer20
NM_001206846.1:c.4066-6436_4066-6435del	NP_001193775.1:n.4066-6436_4066-6435del
NM_018136.4:c.6651_6652del	NP_060606.3:p.Lys2217AsnfsTer20
NM_018136.5:c.6651_6652del MANE Select	NP_060606.3:p.Lys2217AsnfsTer20
NM_001206846.2:c.4066-6436_4066-6435del	NP_001193775.1:n.4066-6436_4066-6435del