Canonical Allele Identifier: CA1310640

Gene: ASPM

Linked Data

• dbSNP Id: rs758114375
• ExAC: 1:197111545 CTGA / C
• gnomAD v2: 1-197111545-CTGA-C
• gnomAD v4: 1-197142415-CTGA-C
• MyVariant Identifiers: chr1:g.197111546_197111548del (hg19) ; chr1:g.197142416_197142418del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197142418_197142420del , CM000663.2:g.197142418_197142420del	GRCh38
NC_000001.10:g.197111548_197111550del , CM000663.1:g.197111548_197111550del	GRCh37
NC_000001.9:g.195378171_195378173del	NCBI36
NG_015867.1:g.9277_9279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.1834_1836del MANE Select	ENSP00000356379.4:p.Ser612del
ENST00000679766.1:n.2051_2053del
ENST00000680265.1:c.1834_1836del	ENSP00000505384.1:p.Ser612del
ENST00000680710.1:c.1834_1836del	ENSP00000506676.1:p.Ser612del
ENST00000681879.1:c.1834_1836del	ENSP00000505363.1:p.Ser612del
ENST00000294732.11:c.1834_1836del	ENSP00000294732.7:p.Ser612del
ENST00000367409.8:c.1834_1836del	ENSP00000356379.4:p.Ser612del
ENST00000612785.1:c.561+1273_561+1275del	ENSP00000479244.1:n.561+1273_561+1275del
NM_001206846.1:c.1834_1836del	NP_001193775.1:p.Ser612del
NM_018136.4:c.1834_1836del	NP_060606.3:p.Ser612del
NM_018136.5:c.1834_1836del MANE Select	NP_060606.3:p.Ser612del
NM_001206846.2:c.1834_1836del	NP_001193775.1:p.Ser612del