Canonical Allele Identifier: CA2649610157
Gene:

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.192800596_192800600dup , CM000663.2:g.192800596_192800600dup GRCh38
NC_000001.10:g.192769726_192769730dup , CM000663.1:g.192769726_192769730dup GRCh37
NC_000001.9:g.191036349_191036353dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000429211.2:n.26_30dup
Search 100 bp 5'
Search 100 bp 3'