Canonical Allele Identifier: CA68139506

Gene: CAPN10

Linked Data

• dbSNP Id: rs899440690
• gnomAD v2: 2-241542561-CAGCTGGCTGGGCCTGCAGCCCCCTCCTGTGCCCCG-C
• gnomAD v3: 2-240603144-CAGCTGGCTGGGCCTGCAGCCCCCTCCTGTGCCCCG-C
• gnomAD v4: 2-240603144-CAGCTGGCTGGGCCTGCAGCCCCCTCCTGTGCCCCG-C
• MyVariant Identifiers: chr2:g.241542562_241542596del (hg19) ; chr2:g.240603145_240603179del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240603152_240603186del , CM000664.2:g.240603152_240603186del	GRCh38
NC_000002.11:g.241542569_241542603del , CM000664.1:g.241542569_241542603del	GRCh37
NC_000002.10:g.241191242_241191276del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000270364.11:c.274-13236_274-13202del	ENSP00000270364.7:n.274-13236_274-13202de...
ENST00000426297.1:c.167-3235_167-3201del