Canonical Allele Identifier: CA913184914
Gene: TH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2165268_2165977del , CM000673.2:g.2165268_2165977del GRCh38
NC_000011.9:g.2186498_2187207del , CM000673.1:g.2186498_2187207del GRCh37
NC_000011.8:g.2143074_2143783del NCBI36
NG_007114.1:g.218_927del
NG_008128.1:g.10829_11538del
NG_050578.1:g.233_942del

Transcript Alleles

HGVS Amino-acid change
ENST00000352909.8:c.1104+25_1298del
ENST00000333684.9:c.822+25_1016del
ENST00000352909.7:c.1104+25_1298del
ENST00000381175.5:c.1185+25_1379del
ENST00000381178.5:c.1197+25_1391del
NM_000360.3:c.1104+25_1298del
NM_199292.2:c.1197+25_1391del
NM_199293.2:c.1185+25_1379del
XM_011520335.1:c.1116+25_1310del
XM_011520335.2:c.1116+25_1310del
NM_000360.4:c.1104+25_1298del
NM_199292.3:c.1197+25_1391del
NM_199293.3:c.1185+25_1379del