Canonical Allele Identifier: CA2611972094

Gene: TH

Linked Data

• gnomAD v4: 11-2165312-G-GGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165315_2165317dup , CM000673.2:g.2165315_2165317dup	GRCh38
NC_000011.9:g.2186545_2186547dup , CM000673.1:g.2186545_2186547dup	GRCh37
NC_000011.8:g.2143121_2143123dup	NCBI36
NG_007114.1:g.880_882dup
NG_008128.1:g.11491_11493dup
NG_050578.1:g.895_897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1251_1253dup MANE Select	ENSP00000325951.4:p.Ala418_Val419insAla
ENST00000324155.8:c.*940_*942dup	ENSP00000325831.3:n.*940_*942dup
ENST00000333684.9:c.969_971dup	ENSP00000328814.6:p.Ala324_Val325insAla
ENST00000352909.7:c.1251_1253dup	ENSP00000325951.3:p.Ala418_Val419insAla
ENST00000381175.5:c.1332_1334dup	ENSP00000370567.1:p.Ala445_Val446insAla
ENST00000381178.5:c.1344_1346dup	ENSP00000370571.1:p.Ala449_Val450insAla
NM_000360.3:c.1251_1253dup	NP_000351.2:p.Ala418_Val419insAla
NM_199292.2:c.1344_1346dup	NP_954986.2:p.Ala449_Val450insAla
NM_199293.2:c.1332_1334dup	NP_954987.2:p.Ala445_Val446insAla
XM_011520335.1:c.1263_1265dup	XP_011518637.1:p.Ala422_Val423insAla
XM_011520335.2:c.1263_1265dup	XP_011518637.1:p.Ala422_Val423insAla
NM_000360.4:c.1251_1253dup MANE Select	NP_000351.2:p.Ala418_Val419insAla
NM_199292.3:c.1344_1346dup	NP_954986.2:p.Ala449_Val450insAla
NM_199293.3:c.1332_1334dup	NP_954987.2:p.Ala445_Val446insAla