Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1015550609

Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs2040603581

gnomAD v3: 20-13316341-A-C

gnomAD v4: 20-13316341-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13316341A>C , CM000682.2:g.13316341A>C	GRCh38
NC_000020.10:g.13296988A>C , CM000682.1:g.13296988A>C	GRCh37
NC_000020.9:g.13244988A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_937280.1:n.601-286T>G
XM_017027680.1:c.878-8725A>C (ISM1)	XP_016883169.1:n.878-8725A>C
XR_001754319.2:n.1282-286T>G (TASP1)

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