Canonical Allele Identifier: CA16617033
Gene: ASPM HGNC NCBI

Linked Data

dbSNP Id: rs1064795945
gnomAD v2: 1-197071461-TGTAA-T
gnomAD v4: 1-197102331-TGTAA-T
MyVariant Identifiers: chr1:g.197071462_197071465del (hg19) chr1:g.197102332_197102335del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.197102334_197102337del , CM000663.2:g.197102334_197102337del GRCh38
NC_000001.10:g.197071464_197071467del , CM000663.1:g.197071464_197071467del GRCh37
NC_000001.9:g.195338087_195338090del NCBI36
NG_015867.1:g.49360_49363del

Transcript Alleles

HGVS Amino-acid change
ENST00000367408.6:n.2108-6171_2108-6168del
ENST00000367409.9:c.6916_6919del MANE Select ENSP00000356379.4:p.Leu2306SerfsTer20
ENST00000680265.1:c.6916_6919del ENSP00000505384.1:p.Leu2306SerfsTer20
ENST00000680710.1:c.6916_6919del ENSP00000506676.1:p.Leu2306SerfsTer20
ENST00000294732.11:c.4066-6171_4066-6168del ENSP00000294732.7:n.4066-6171_4066-6168de...
ENST00000367408.5:c.1816-6171_1816-6168del ENSP00000356378.1:n.1816-6171_1816-6168de...
ENST00000367409.8:c.6916_6919del ENSP00000356379.4:p.Leu2306SerfsTer20
ENST00000612785.1:c.874_877del ENSP00000479244.1:p.Leu292SerfsTer20
NM_001206846.1:c.4066-6171_4066-6168del NP_001193775.1:n.4066-6171_4066-6168del
NM_018136.4:c.6916_6919del NP_060606.3:p.Leu2306SerfsTer20
NM_018136.5:c.6916_6919del MANE Select NP_060606.3:p.Leu2306SerfsTer20
NM_001206846.2:c.4066-6171_4066-6168del NP_001193775.1:n.4066-6171_4066-6168del
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