Canonical Allele Identifier: CA1309023

Gene: ASPM

Linked Data

• dbSNP Id: rs770901890
• ExAC: 1:197062307 AAGC / A
• gnomAD v2: 1-197062307-AAGC-A
• gnomAD v4: 1-197093177-AAGC-A
• MyVariant Identifiers: chr1:g.197062308_197062310del (hg19) ; chr1:g.197093178_197093180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197093183_197093185del , CM000663.2:g.197093183_197093185del	GRCh38
NC_000001.10:g.197062313_197062315del , CM000663.1:g.197062313_197062315del	GRCh37
NC_000001.9:g.195328936_195328938del	NCBI36
NG_015867.1:g.58515_58517del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367408.6:n.2453_2455del
ENST00000367409.9:c.9166_9168del MANE Select	ENSP00000356379.4:p.Ala3056del
ENST00000680265.1:c.9388_9390del	ENSP00000505384.1:p.Ala3130del
ENST00000680710.1:c.9166_9168del	ENSP00000506676.1:p.Ala3056del
ENST00000294732.11:c.4411_4413del	ENSP00000294732.7:p.Ala1471del
ENST00000367408.5:c.2161_2163del	ENSP00000356378.1:p.Ala721del
ENST00000367409.8:c.9166_9168del	ENSP00000356379.4:p.Ala3056del
ENST00000612785.1:c.3124_3126del	ENSP00000479244.1:p.Ala1042del
NM_001206846.1:c.4411_4413del	NP_001193775.1:p.Ala1471del
NM_018136.4:c.9166_9168del	NP_060606.3:p.Ala3056del
NM_018136.5:c.9166_9168del MANE Select	NP_060606.3:p.Ala3056del
NM_001206846.2:c.4411_4413del	NP_001193775.1:p.Ala1471del