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: CA1125866554

Gene:

Linked Data

dbSNP Id: rs2076503480

gnomAD v3: 9-79731016-A-ACGCCTCTTTG

gnomAD v4: 9-79731016-A-ACGCCTCTTTG

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Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.79731016_79731017insCGCCTCTTTG , CM000671.2:g.79731016_79731017insCGCCTCTTTG	GRCh38
NC_000009.11:g.82345931_82345932insCGCCTCTTTG , CM000671.1:g.82345931_82345932insCGCCTCTTTG	GRCh37
NC_000009.10:g.81535751_81535752insCGCCTCTTTG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_929980.1:n.1019+704_1019+705insCGCCTCTTTG

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