Canonical Allele Identifier: CA2574124290

Gene: ASPM

Linked Data

• gnomAD v4: 1-197102464-GCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102468_197102470del , CM000663.2:g.197102468_197102470del	GRCh38
NC_000001.10:g.197071598_197071600del , CM000663.1:g.197071598_197071600del	GRCh37
NC_000001.9:g.195338221_195338223del	NCBI36
NG_015867.1:g.49228_49230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6303_2108-6301del
ENST00000367409.9:c.6784_6786del MANE Select	ENSP00000356379.4:p.Met2262del
ENST00000680265.1:c.6784_6786del	ENSP00000505384.1:p.Met2262del
ENST00000680710.1:c.6784_6786del	ENSP00000506676.1:p.Met2262del
ENST00000294732.11:c.4066-6303_4066-6301del	ENSP00000294732.7:n.4066-6303_4066-6301del
ENST00000367408.5:c.1816-6303_1816-6301del	ENSP00000356378.1:n.1816-6303_1816-6301del
ENST00000367409.8:c.6784_6786del	ENSP00000356379.4:p.Met2262del
ENST00000612785.1:c.742_744del	ENSP00000479244.1:p.Met248del
NM_001206846.1:c.4066-6303_4066-6301del	NP_001193775.1:n.4066-6303_4066-6301del
NM_018136.4:c.6784_6786del	NP_060606.3:p.Met2262del
NM_018136.5:c.6784_6786del MANE Select	NP_060606.3:p.Met2262del
NM_001206846.2:c.4066-6303_4066-6301del	NP_001193775.1:n.4066-6303_4066-6301del