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: CA570266735

Gene:

Linked Data

dbSNP Id: rs1562167827

gnomAD v2: 6-121748498-CCTTATGCAGGTTGTCTCTTTACTGTTACCAGAGGCTTGGGAGGAAAAGAGGGAGGTGGGGAGATAGTTTGCAAATATTTTCTCCT-C

gnomAD v3: 6-121427352-CCTTATGCAGGTTGTCTCTTTACTGTTACCAGAGGCTTGGGAGGAAAAGAGGGAGGTGGGGAGATAGTTTGCAAATATTTTCTCCT-C

gnomAD v4: 6-121427352-CCTTATGCAGGTTGTCTCTTTACTGTTACCAGAGGCTTGGGAGGAAAAGAGGGAGGTGGGGAGATAGTTTGCAAATATTTTCTCCT-C

MyVariant Identifiers: chr6:g.121748499_121748583del (hg19) chr6:g.121427353_121427437del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121427396_121427480del , CM000668.2:g.121427396_121427480del	GRCh38
NC_000006.11:g.121748542_121748626del , CM000668.1:g.121748542_121748626del	GRCh37
NC_000006.10:g.121790241_121790325del	NCBI36

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