Canonical Allele Identifier: CA2649661761

Gene: ASPM

Linked Data

• gnomAD v4: 1-197104294-TATACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197104295_197104299del , CM000663.2:g.197104295_197104299del	GRCh38
NC_000001.10:g.197073425_197073429del , CM000663.1:g.197073425_197073429del	GRCh37
NC_000001.9:g.195340048_195340052del	NCBI36
NG_015867.1:g.47396_47400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-8135_2108-8131del
ENST00000367409.9:c.4952_4956del MANE Select	ENSP00000356379.4:p.Met1651AsnfsTer20
ENST00000680265.1:c.4952_4956del	ENSP00000505384.1:p.Met1651AsnfsTer20
ENST00000680710.1:c.4952_4956del	ENSP00000506676.1:p.Met1651AsnfsTer20
ENST00000294732.11:c.4066-8135_4066-8131del	ENSP00000294732.7:n.4066-8135_4066-8131del
ENST00000367408.5:c.1816-8135_1816-8131del	ENSP00000356378.1:n.1816-8135_1816-8131del
ENST00000367409.8:c.4952_4956del	ENSP00000356379.4:p.Met1651AsnfsTer20
ENST00000612785.1:c.562-1652_562-1648del	ENSP00000479244.1:n.562-1652_562-1648del
NM_001206846.1:c.4066-8135_4066-8131del	NP_001193775.1:n.4066-8135_4066-8131del
NM_018136.4:c.4952_4956del	NP_060606.3:p.Met1651AsnfsTer20
NM_018136.5:c.4952_4956del MANE Select	NP_060606.3:p.Met1651AsnfsTer20
NM_001206846.2:c.4066-8135_4066-8131del	NP_001193775.1:n.4066-8135_4066-8131del