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: CA741342945

Gene: ISM1 HGNC NCBI
TASP1 HGNC NCBI

Linked Data

dbSNP Id: rs1221513128

gnomAD v3: 20-13316108-GGATATCACTACA-G

gnomAD v4: 20-13316108-GGATATCACTACA-G

MyVariant Identifiers: chr20:g.13296756_13296767del (hg19) chr20:g.13316109_13316120del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.13316116_13316127del , CM000682.2:g.13316116_13316127del	GRCh38
NC_000020.10:g.13296763_13296774del , CM000682.1:g.13296763_13296774del	GRCh37
NC_000020.9:g.13244763_13244774del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_937280.1:n.601-65_601-54del
XM_017027680.1:c.878-8950_878-8939del (ISM1)	XP_016883169.1:n.878-8950_878-8939del
XR_001754319.2:n.1282-65_1282-54del (TASP1)

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