Canonical Allele Identifier: CA1948003184

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165025_2165027delinsCCA , CM000673.2:g.2165025_2165027delinsCCA	GRCh38
NC_000011.9:g.2186255_2186257delinsCCA , CM000673.1:g.2186255_2186257delinsCCA	GRCh37
NC_000011.8:g.2142831_2142833delinsCCA	NCBI36
NG_007114.1:g.1168_1170delinsTGG
NG_008128.1:g.11779_11781delinsTGG
NG_050578.1:g.1183_1185delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+205_1334+207delinsTGG MANE Select	ENSP00000325951.4:n.1334+205_1334+207delinsTGG
ENST00000333684.9:c.1052+205_1052+207delinsTGG	ENSP00000328814.6:n.1052+205_1052+207delinsTGG
ENST00000352909.7:c.1334+205_1334+207delinsTGG	ENSP00000325951.3:n.1334+205_1334+207delinsTGG
ENST00000381175.5:c.1415+205_1415+207delinsTGG	ENSP00000370567.1:n.1415+205_1415+207delinsTGG
ENST00000381178.5:c.1427+205_1427+207delinsTGG	ENSP00000370571.1:n.1427+205_1427+207delinsTGG
NM_000360.3:c.1334+205_1334+207delinsTGG	NP_000351.2:n.1334+205_1334+207delinsTGG
NM_199292.2:c.1427+205_1427+207delinsTGG	NP_954986.2:n.1427+205_1427+207delinsTGG
NM_199293.2:c.1415+205_1415+207delinsTGG	NP_954987.2:n.1415+205_1415+207delinsTGG
XM_011520335.1:c.1346+205_1346+207delinsTGG	XP_011518637.1:n.1346+205_1346+207delinsTGG
XM_011520335.2:c.1346+205_1346+207delinsTGG	XP_011518637.1:n.1346+205_1346+207delinsTGG
NM_000360.4:c.1334+205_1334+207delinsTGG MANE Select	NP_000351.2:n.1334+205_1334+207delinsTGG
NM_199292.3:c.1427+205_1427+207delinsTGG	NP_954986.2:n.1427+205_1427+207delinsTGG
NM_199293.3:c.1415+205_1415+207delinsTGG	NP_954987.2:n.1415+205_1415+207delinsTGG