Canonical Allele Identifier: CA729744026

Gene: ASPM

Linked Data

• dbSNP Id: rs1187526205
• MyVariant Identifiers: chr1:g.197057654_197057656del (hg19) ; chr1:g.197088524_197088526del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197088524_197088526del , CM000663.2:g.197088524_197088526del	GRCh38
NC_000001.10:g.197057654_197057656del , CM000663.1:g.197057654_197057656del	GRCh37
NC_000001.9:g.195324277_195324279del	NCBI36
NG_015867.1:g.63169_63171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.3272-94_3272-92del
ENST00000367409.9:c.9985-94_9985-92del MANE Select	ENSP00000356379.4:n.9985-94_9985-92del
ENST00000680265.1:c.10207-94_10207-92del	ENSP00000505384.1:n.10207-94_10207-92del
ENST00000680710.1:c.9961-94_9961-92del	ENSP00000506676.1:n.9961-94_9961-92del
ENST00000294732.11:c.5230-94_5230-92del	ENSP00000294732.7:n.5230-94_5230-92del
ENST00000367408.5:c.2980-94_2980-92del	ENSP00000356378.1:n.2980-94_2980-92del
ENST00000367409.8:c.9985-94_9985-92del	ENSP00000356379.4:n.9985-94_9985-92del
ENST00000612785.1:c.3943-94_3943-92del	ENSP00000479244.1:n.3943-94_3943-92del
NM_001206846.1:c.5230-94_5230-92del	NP_001193775.1:n.5230-94_5230-92del
NM_018136.4:c.9985-94_9985-92del	NP_060606.3:n.9985-94_9985-92del
NM_018136.5:c.9985-94_9985-92del MANE Select	NP_060606.3:n.9985-94_9985-92del
NM_001206846.2:c.5230-94_5230-92del	NP_001193775.1:n.5230-94_5230-92del