Canonical Allele Identifier: CA1948012436
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2172030_2172031delinsGC , CM000673.2:g.2172030_2172031delinsGC GRCh38
NC_000011.9:g.2193260_2193261delinsGC , CM000673.1:g.2193260_2193261delinsGC GRCh37
NC_000011.8:g.2149836_2149837delinsGC NCBI36
NG_008128.1:g.4775_4776delinsGC

Transcript Alleles

HGVS Amino-acid Change
XM_011520335.1:c.-245_-244delinsGC XP_011518637.1:n.-245_-244delinsGC
XM_011520335.2:c.-245_-244delinsGC XP_011518637.1:n.-245_-244delinsGC