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: CA540546244

Gene: CAPN10 HGNC NCBI

Linked Data

gnomAD v2: 2-241542575-T-TGCAGCCCCCTCCTGTGCCCCGAGCTGGCCGGGCCC

gnomAD v3: 2-240603158-T-TGCAGCCCCCTCCTGTGCCCCGAGCTGGCCGGGCCC

gnomAD v4: 2-240603158-T-TGCAGCCCCCTCCTGTGCCCCGAGCTGGCCGGGCCC

MyVariant Identifiers: chr2:g.241542575_241542576insGCAGCCCCCTCCTGTGCCCCGAGCTGGCCGGGCCC (hg19) chr2:g.240603158_240603159insGCAGCCCCCTCCTGTGCCCCGAGCTGGCCGGGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240603166_240603200dup , CM000664.2:g.240603166_240603200dup	GRCh38
NC_000002.11:g.241542583_241542617dup , CM000664.1:g.241542583_241542617dup	GRCh37
NC_000002.10:g.241191256_241191290dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270364.11:c.274-13222_274-13188dup	ENSP00000270364.7:n.274-13222_274-13188dup
ENST00000426297.1:c.167-3221_167-3187dup

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