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: CA927684751

Gene:

Linked Data

gnomAD v3: 10-43076962-TCCCGCACCCCACCCGCCTCCGGCCCCGCCTGGCCCACCCCTGGACCGCCCCCGCCCCGCCCCGCCCCTA-T

gnomAD v4: 10-43076962-TCCCGCACCCCACCCGCCTCCGGCCCCGCCTGGCCCACCCCTGGACCGCCCCCGCCCCGCCCCGCCCCTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43076968_43077036del , CM000672.2:g.43076968_43077036del	GRCh38
NC_000010.10:g.43572416_43572484del , CM000672.1:g.43572416_43572484del	GRCh37
NC_000010.9:g.42892422_42892490del	NCBI36
NG_007489.1:g.4900_4968del , LRG_518:g.4900_4968del

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