Canonical Allele Identifier: CA2611972335

Gene: TH

Linked Data

• gnomAD v4: 11-2165412-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165412_2165413insT , CM000673.2:g.2165412_2165413insT	GRCh38
NC_000011.9:g.2186642_2186643insT , CM000673.1:g.2186642_2186643insT	GRCh37
NC_000011.8:g.2143218_2143219insT	NCBI36
NG_007114.1:g.782_783insA
NG_008128.1:g.11393_11394insA
NG_050578.1:g.797_798insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1201-48_1201-47insA MANE Select	ENSP00000325951.4:n.1201-48_1201-47insA
ENST00000324155.8:c.*890-48_*890-47insA	ENSP00000325831.3:n.*890-48_*890-47insA
ENST00000333684.9:c.919-48_919-47insA	ENSP00000328814.6:n.919-48_919-47insA
ENST00000352909.7:c.1201-48_1201-47insA	ENSP00000325951.3:n.1201-48_1201-47insA
ENST00000381175.5:c.1282-48_1282-47insA	ENSP00000370567.1:n.1282-48_1282-47insA
ENST00000381178.5:c.1294-48_1294-47insA	ENSP00000370571.1:n.1294-48_1294-47insA
NM_000360.3:c.1201-48_1201-47insA	NP_000351.2:n.1201-48_1201-47insA
NM_199292.2:c.1294-48_1294-47insA	NP_954986.2:n.1294-48_1294-47insA
NM_199293.2:c.1282-48_1282-47insA	NP_954987.2:n.1282-48_1282-47insA
XM_011520335.1:c.1213-48_1213-47insA	XP_011518637.1:n.1213-48_1213-47insA
XM_011520335.2:c.1213-48_1213-47insA	XP_011518637.1:n.1213-48_1213-47insA
NM_000360.4:c.1201-48_1201-47insA MANE Select	NP_000351.2:n.1201-48_1201-47insA
NM_199292.3:c.1294-48_1294-47insA	NP_954986.2:n.1294-48_1294-47insA
NM_199293.3:c.1282-48_1282-47insA	NP_954987.2:n.1282-48_1282-47insA