Canonical Allele Identifier: CA916374913

Gene: ASPM

Linked Data

• dbSNP Id: rs1557964903
• gnomAD v4: 1-197142447-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142450_197142452del , CM000663.2:g.197142450_197142452del	GRCh38
NC_000001.10:g.197111580_197111582del , CM000663.1:g.197111580_197111582del	GRCh37
NC_000001.9:g.195378203_195378205del	NCBI36
NG_015867.1:g.9245_9247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1802_1804del MANE Select	ENSP00000356379.4:p.Arg601del
ENST00000679766.1:n.2019_2021del
ENST00000680265.1:c.1802_1804del	ENSP00000505384.1:p.Arg601del
ENST00000680710.1:c.1802_1804del	ENSP00000506676.1:p.Arg601del
ENST00000681879.1:c.1802_1804del	ENSP00000505363.1:p.Arg601del
ENST00000294732.11:c.1802_1804del	ENSP00000294732.7:p.Arg601del
ENST00000367409.8:c.1802_1804del	ENSP00000356379.4:p.Arg601del
ENST00000612785.1:c.561+1241_561+1243del	ENSP00000479244.1:n.561+1241_561+1243del
NM_001206846.1:c.1802_1804del	NP_001193775.1:p.Arg601del
NM_018136.4:c.1802_1804del	NP_060606.3:p.Arg601del
NM_018136.5:c.1802_1804del MANE Select	NP_060606.3:p.Arg601del
NM_001206846.2:c.1802_1804del	NP_001193775.1:p.Arg601del