Canonical Allele Identifier: CA422805953

Gene: ASPM

Linked Data

• dbSNP Id: rs1236679719
• gnomAD v2: 1-197069886-TTTC-T
• MyVariant Identifiers: chr1:g.197069887_197069889del (hg19) ; chr1:g.197100757_197100759del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197100759_197100761del , CM000663.2:g.197100759_197100761del	GRCh38
NC_000001.10:g.197069889_197069891del , CM000663.1:g.197069889_197069891del	GRCh37
NC_000001.9:g.195336512_195336514del	NCBI36
NG_015867.1:g.50936_50938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2108-4595_2108-4593del
ENST00000367409.9:c.8492_8494del MANE Select	ENSP00000356379.4:p.Arg2831del
ENST00000680265.1:c.8492_8494del	ENSP00000505384.1:p.Arg2831del
ENST00000680710.1:c.8492_8494del	ENSP00000506676.1:p.Arg2831del
ENST00000294732.11:c.4066-4595_4066-4593del	ENSP00000294732.7:n.4066-4595_4066-4593del
ENST00000367408.5:c.1816-4595_1816-4593del	ENSP00000356378.1:n.1816-4595_1816-4593del
ENST00000367409.8:c.8492_8494del	ENSP00000356379.4:p.Arg2831del
ENST00000612785.1:c.2450_2452del	ENSP00000479244.1:p.Arg817del
NM_001206846.1:c.4066-4595_4066-4593del	NP_001193775.1:n.4066-4595_4066-4593del
NM_018136.4:c.8492_8494del	NP_060606.3:p.Arg2831del
NM_018136.5:c.8492_8494del MANE Select	NP_060606.3:p.Arg2831del
NM_001206846.2:c.4066-4595_4066-4593del	NP_001193775.1:n.4066-4595_4066-4593del