Canonical Allele Identifier: CA1310806

Gene: ASPM

Linked Data

• dbSNP Id: rs751307997
• ExAC: 1:197112568 TAAAA / T
• gnomAD v2: 1-197112568-TAAAA-T
• gnomAD v4: 1-197143438-TAAAA-T
• MyVariant Identifiers: chr1:g.197112569_197112572del (hg19) ; chr1:g.197143439_197143442del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197143439_197143442del , CM000663.2:g.197143439_197143442del	GRCh38
NC_000001.10:g.197112569_197112572del , CM000663.1:g.197112569_197112572del	GRCh37
NC_000001.9:g.195379192_195379195del	NCBI36
NG_015867.1:g.8253_8256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367409.9:c.810_813del MANE Select	ENSP00000356379.4:p.Phe271MetfsTer5
ENST00000679766.1:n.1027_1030del
ENST00000680265.1:c.810_813del	ENSP00000505384.1:p.Phe271MetfsTer5
ENST00000680710.1:c.810_813del	ENSP00000506676.1:p.Phe271MetfsTer5
ENST00000681879.1:c.810_813del	ENSP00000505363.1:p.Phe271MetfsTer5
ENST00000294732.11:c.810_813del	ENSP00000294732.7:p.Phe271MetfsTer5
ENST00000367409.8:c.810_813del	ENSP00000356379.4:p.Phe271MetfsTer5
ENST00000612785.1:c.561+249_561+252del	ENSP00000479244.1:n.561+249_561+252del
NM_001206846.1:c.810_813del	NP_001193775.1:p.Phe271MetfsTer5
NM_018136.4:c.810_813del	NP_060606.3:p.Phe271MetfsTer5
NM_018136.5:c.810_813del MANE Select	NP_060606.3:p.Phe271MetfsTer5
NM_001206846.2:c.810_813del	NP_001193775.1:p.Phe271MetfsTer5