Canonical Allele Identifier: CA1948003503

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165283_2165284delinsTG , CM000673.2:g.2165283_2165284delinsTG	GRCh38
NC_000011.9:g.2186513_2186514delinsTG , CM000673.1:g.2186513_2186514delinsTG	GRCh37
NC_000011.8:g.2143089_2143090delinsTG	NCBI36
NG_007114.1:g.911_912delinsCA
NG_008128.1:g.11522_11523delinsCA
NG_050578.1:g.926_927delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1282_1283delinsCA MANE Select	ENSP00000325951.4:p.Gln428=
ENST00000333684.9:c.1000_1001delinsCA	ENSP00000328814.6:p.Gln334=
ENST00000352909.7:c.1282_1283delinsCA	ENSP00000325951.3:p.Gln428=
ENST00000381175.5:c.1363_1364delinsCA	ENSP00000370567.1:p.Gln455=
ENST00000381178.5:c.1375_1376delinsCA	ENSP00000370571.1:p.Gln459=
NM_000360.3:c.1282_1283delinsCA	NP_000351.2:p.Gln428=
NM_199292.2:c.1375_1376delinsCA	NP_954986.2:p.Gln459=
NM_199293.2:c.1363_1364delinsCA	NP_954987.2:p.Gln455=
XM_011520335.1:c.1294_1295delinsCA	XP_011518637.1:p.Gln432=
XM_011520335.2:c.1294_1295delinsCA	XP_011518637.1:p.Gln432=
NM_000360.4:c.1282_1283delinsCA MANE Select	NP_000351.2:p.Gln428=
NM_199292.3:c.1375_1376delinsCA	NP_954986.2:p.Gln459=
NM_199293.3:c.1363_1364delinsCA	NP_954987.2:p.Gln455=