Canonical Allele Identifier: CA540752348
Gene: CAPN10-DT HGNC NCBI

Linked Data

dbSNP Id: rs1399452704
gnomAD v2: 2-241522275-T-TAA
gnomAD v3: 2-240582858-T-TAA
gnomAD v4: 2-240582858-T-TAA
MyVariant Identifiers: chr2:g.241522275_241522276insAA (hg19) chr2:g.240582858_240582859insAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240582860_240582861dup , CM000664.2:g.240582860_240582861dup GRCh38
NC_000002.11:g.241522277_241522278dup , CM000664.1:g.241522277_241522278dup GRCh37
NC_000002.10:g.241170950_241170951dup NCBI36
NG_011558.2:g.1145_1146dup

Transcript Alleles

HGVS Amino-acid Change
NR_103792.1:n.3457_3458dup
Search 100 bp 5'
Search 100 bp 3'