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: CA1054799237

Gene:

Linked Data

gnomAD v3: 3-149126637-TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC-T

gnomAD v4: 3-149126637-TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149126647_149126780del , CM000665.2:g.149126647_149126780del	GRCh38
NC_000003.11:g.148844434_148844567del , CM000665.1:g.148844434_148844567del	GRCh37
NC_000003.10:g.150327124_150327257del	NCBI36
NG_009847.1:g.2064_2197del

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