Canonical Allele Identifier: CA741342988
Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs1242521612
gnomAD v3: 20-13316248-AACAG-A
gnomAD v4: 20-13316248-AACAG-A
MyVariant Identifiers: chr20:g.13296896_13296899del (hg19) chr20:g.13316249_13316252del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.13316252_13316255del , CM000682.2:g.13316252_13316255del GRCh38
NC_000020.10:g.13296899_13296902del , CM000682.1:g.13296899_13296902del GRCh37
NC_000020.9:g.13244899_13244902del NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_937280.1:n.601-197_601-194del
XM_017027680.1:c.878-8814_878-8811del (ISM1) XP_016883169.1:n.878-8814_878-8811del
XR_001754319.2:n.1282-197_1282-194del (TASP1)
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