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: CA2608893722

Gene:

Linked Data

gnomAD v4: 10-43076905-GCGCCGCGCCCCGGCCGCACCCCGCGCAGCCAGAGCAAGCACTGGAGCCCCGCCCCTTCCCGCACCCCACCCGCCTCCGGCCCCGCCTGGCCCACCCCTGGACCGCCCCCGCCCCGCCCCGCCCCTACCCGCTCCTCCGGCGCAGCCGGCGCTTACCTCGCTTCAGTCCCGCGACCGAAGCAGGGCGCGCAGCAGCGCTGAGTGCCCCGGAACGTGCGTCGCGCCCCCAGTGTCCGTCGCGTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.43076919_43077160del , CM000672.2:g.43076919_43077160del	GRCh38
NC_000010.10:g.43572367_43572608del , CM000672.1:g.43572367_43572608del	GRCh37
NC_000010.9:g.42892373_42892614del	NCBI36
NG_007489.1:g.4851_5092del , LRG_518:g.4851_5092del

Search 100 bp 5'

Search 100 bp 3'