Canonical Allele Identifier: CA2649610156
Gene:

Linked Data

gnomAD v4: 1-192800585-G-GAAAAAAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800594_192800600dup , CM000663.2:g.192800594_192800600dup GRCh38
NC_000001.10:g.192769724_192769730dup , CM000663.1:g.192769724_192769730dup GRCh37
NC_000001.9:g.191036347_191036353dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.24_30dup
Search 100 bp 5'
Search 100 bp 3'