Canonical Allele Identifier: CA2590508779

Gene: TH

Linked Data

• dbSNP Id: rs2133688506
• gnomAD v3: 11-2165122-T-TGCAG
• gnomAD v4: 11-2165122-T-TGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165122_2165123insGCAG , CM000673.2:g.2165122_2165123insGCAG	GRCh38
NC_000011.9:g.2186352_2186353insGCAG , CM000673.1:g.2186352_2186353insGCAG	GRCh37
NC_000011.8:g.2142928_2142929insGCAG	NCBI36
NG_007114.1:g.1072_1073insCTGC
NG_008128.1:g.11683_11684insCTGC
NG_050578.1:g.1087_1088insCTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1334+109_1334+110insCTGC MANE Select	ENSP00000325951.4:n.1334+109_1334+110insC...
ENST00000333684.9:c.1052+109_1052+110insCTGC	ENSP00000328814.6:n.1052+109_1052+110insC...
ENST00000352909.7:c.1334+109_1334+110insCTGC	ENSP00000325951.3:n.1334+109_1334+110insC...
ENST00000381175.5:c.1415+109_1415+110insCTGC	ENSP00000370567.1:n.1415+109_1415+110insC...
ENST00000381178.5:c.1427+109_1427+110insCTGC	ENSP00000370571.1:n.1427+109_1427+110insC...
NM_000360.3:c.1334+109_1334+110insCTGC	NP_000351.2:n.1334+109_1334+110insCTGC
NM_199292.2:c.1427+109_1427+110insCTGC	NP_954986.2:n.1427+109_1427+110insCTGC
NM_199293.2:c.1415+109_1415+110insCTGC	NP_954987.2:n.1415+109_1415+110insCTGC
XM_011520335.1:c.1346+109_1346+110insCTGC	XP_011518637.1:n.1346+109_1346+110insCTGC...
XM_011520335.2:c.1346+109_1346+110insCTGC	XP_011518637.1:n.1346+109_1346+110insCTGC...
NM_000360.4:c.1334+109_1334+110insCTGC MANE Select	NP_000351.2:n.1334+109_1334+110insCTGC
NM_199292.3:c.1427+109_1427+110insCTGC	NP_954986.2:n.1427+109_1427+110insCTGC
NM_199293.3:c.1415+109_1415+110insCTGC	NP_954987.2:n.1415+109_1415+110insCTGC