Canonical Allele Identifier: CA68119120

Gene: CAPN10-DT

Linked Data

• dbSNP Id: rs1038191029
• gnomAD v3: 2-240582849-CAG-C
• gnomAD v4: 2-240582849-CAG-C
• MyVariant Identifiers: chr2:g.241522267_241522268del (hg19) ; chr2:g.240582850_240582851del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240582854_240582855del , CM000664.2:g.240582854_240582855del	GRCh38
NC_000002.11:g.241522271_241522272del , CM000664.1:g.241522271_241522272del	GRCh37
NC_000002.10:g.241170944_241170945del	NCBI36
NG_011558.2:g.1139_1140del

Transcript Alleles

HGVS	Amino-acid change
NR_103792.1:n.3466_3467del