Canonical Allele Identifier: CA35870447

Gene: ASPM

Linked Data

• dbSNP Id: rs797045316
• gnomAD v2: 1-197070523-GTTTT-G
• gnomAD v3: 1-197101393-GTTTT-G
• gnomAD v4: 1-197101393-GTTTT-G
• MyVariant Identifiers: chr1:g.197070524_197070527del (hg19) ; chr1:g.197101394_197101397del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101397_197101400del , CM000663.2:g.197101397_197101400del	GRCh38
NC_000001.10:g.197070527_197070530del , CM000663.1:g.197070527_197070530del	GRCh37
NC_000001.9:g.195337150_195337153del	NCBI36
NG_015867.1:g.50298_50301del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5233_2108-5230del
ENST00000367409.9:c.7854_7857del MANE Select	ENSP00000356379.4:p.Lys2618AsnfsTer22
ENST00000680265.1:c.7854_7857del	ENSP00000505384.1:p.Lys2618AsnfsTer22
ENST00000680710.1:c.7854_7857del	ENSP00000506676.1:p.Lys2618AsnfsTer22
ENST00000294732.11:c.4066-5233_4066-5230del	ENSP00000294732.7:n.4066-5233_4066-5230de...
ENST00000367408.5:c.1816-5233_1816-5230del	ENSP00000356378.1:n.1816-5233_1816-5230de...
ENST00000367409.8:c.7854_7857del	ENSP00000356379.4:p.Lys2618AsnfsTer22
ENST00000612785.1:c.1812_1815del	ENSP00000479244.1:p.Lys604AsnfsTer22
NM_001206846.1:c.4066-5233_4066-5230del	NP_001193775.1:n.4066-5233_4066-5230del
NM_018136.4:c.7854_7857del	NP_060606.3:p.Lys2618AsnfsTer22
NM_018136.5:c.7854_7857del MANE Select	NP_060606.3:p.Lys2618AsnfsTer22
NM_001206846.2:c.4066-5233_4066-5230del	NP_001193775.1:n.4066-5233_4066-5230del