Canonical Allele Identifier: CA528534986

Gene: ASPM

Linked Data

• dbSNP Id: rs1240991597
• gnomAD v2: 1-197070529-TTA-T
• gnomAD v4: 1-197101399-TTA-T
• MyVariant Identifiers: chr1:g.197070530_197070531del (hg19) ; chr1:g.197101400_197101401del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197101401_197101402del , CM000663.2:g.197101401_197101402del	GRCh38
NC_000001.10:g.197070531_197070532del , CM000663.1:g.197070531_197070532del	GRCh37
NC_000001.9:g.195337154_195337155del	NCBI36
NG_015867.1:g.50294_50295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367408.6:n.2108-5237_2108-5236del
ENST00000367409.9:c.7850_7851del MANE Select	ENSP00000356379.4:p.Ile2617LysfsTer19
ENST00000680265.1:c.7850_7851del	ENSP00000505384.1:p.Ile2617LysfsTer19
ENST00000680710.1:c.7850_7851del	ENSP00000506676.1:p.Ile2617LysfsTer19
ENST00000294732.11:c.4066-5237_4066-5236del	ENSP00000294732.7:n.4066-5237_4066-5236de...
ENST00000367408.5:c.1816-5237_1816-5236del	ENSP00000356378.1:n.1816-5237_1816-5236de...
ENST00000367409.8:c.7850_7851del	ENSP00000356379.4:p.Ile2617LysfsTer19
ENST00000612785.1:c.1808_1809del	ENSP00000479244.1:p.Ile603LysfsTer19
NM_001206846.1:c.4066-5237_4066-5236del	NP_001193775.1:n.4066-5237_4066-5236del
NM_018136.4:c.7850_7851del	NP_060606.3:p.Ile2617LysfsTer19
NM_018136.5:c.7850_7851del MANE Select	NP_060606.3:p.Ile2617LysfsTer19
NM_001206846.2:c.4066-5237_4066-5236del	NP_001193775.1:n.4066-5237_4066-5236del