Canonical Allele Identifier: CA2649610173
Gene:

Linked Data

gnomAD v4: 1-192800742-C-CA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800744dup , CM000663.2:g.192800744dup GRCh38
NC_000001.10:g.192769874dup , CM000663.1:g.192769874dup GRCh37
NC_000001.9:g.191036497dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.174dup
Search 100 bp 5'
Search 100 bp 3'