Canonical Allele Identifier: CA528534997

Gene: ASPM

Linked Data

• ClinVar Variation Id: 587532
• ClinVar RCV Id: RCV000714742 ; RCV002532975
• dbSNP Id: rs1334301723
• gnomAD v2: 1-197071738-TTTTC-T
• gnomAD v4: 1-197102608-TTTTC-T
• MyVariant Identifiers: chr1:g.197071739_197071742del (hg19) ; chr1:g.197102609_197102612del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197102612_197102615del , CM000663.2:g.197102612_197102615del	GRCh38
NC_000001.10:g.197071742_197071745del , CM000663.1:g.197071742_197071745del	GRCh37
NC_000001.9:g.195338365_195338368del	NCBI36
NG_015867.1:g.49083_49086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-6448_2108-6445del
ENST00000367409.9:c.6639_6642del MANE Select	ENSP00000356379.4:p.Lys2214Ter
ENST00000680265.1:c.6639_6642del	ENSP00000505384.1:p.Lys2214Ter
ENST00000680710.1:c.6639_6642del	ENSP00000506676.1:p.Lys2214Ter
ENST00000294732.11:c.4066-6448_4066-6445del	ENSP00000294732.7:n.4066-6448_4066-6445del
ENST00000367408.5:c.1816-6448_1816-6445del	ENSP00000356378.1:n.1816-6448_1816-6445del
ENST00000367409.8:c.6639_6642del	ENSP00000356379.4:p.Lys2214Ter
ENST00000612785.1:c.597_600del	ENSP00000479244.1:p.Lys200Ter
NM_001206846.1:c.4066-6448_4066-6445del	NP_001193775.1:n.4066-6448_4066-6445del
NM_018136.4:c.6639_6642del	NP_060606.3:p.Lys2214Ter
NM_018136.5:c.6639_6642del MANE Select	NP_060606.3:p.Lys2214Ter
NM_001206846.2:c.4066-6448_4066-6445del	NP_001193775.1:n.4066-6448_4066-6445del