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: CA565010928

Gene:

Linked Data

dbSNP Id: rs1561704240

gnomAD v2: 6-383350-G-GTGCCCACCCCAACAGAAGCTGTGGCTCTGCAGGACACGTGCGGGGTAGACCTCTAAGGCCTTGTCCCAGTGGAAA

gnomAD v3: 6-383350-G-GTGCCCACCCCAACAGAAGCTGTGGCTCTGCAGGACACGTGCGGGGTAGACCTCTAAGGCCTTGTCCCAGTGGAAA

gnomAD v4: 6-383350-G-GTGCCCACCCCAACAGAAGCTGTGGCTCTGCAGGACACGTGCGGGGTAGACCTCTAAGGCCTTGTCCCAGTGGAAA

MyVariant Identifiers: chr6:g.383350_383351insTGCCCACCCCAACAGAAGCTGTGGCTCTGCAGGACACGTGCGGGGTAGACCTCTAAGGCCTTGTCCCAGTGGAAA (hg19) chr6:g.383350_383351insTGCCCACCCCAACAGAAGCTGTGGCTCTGCAGGACACGTGCGGGGTAGACCTCTAAGGCCTTGTCCCAGTGGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.383356_383430dup , CM000668.2:g.383356_383430dup	GRCh38
NC_000006.11:g.383356_383430dup , CM000668.1:g.383356_383430dup	GRCh37
NC_000006.10:g.328356_328430dup	NCBI36

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