Canonical Allele Identifier: CA934428208

Gene: TH

Linked Data

• dbSNP Id: rs1846047281
• gnomAD v3: 11-2165025-CCA-C
• gnomAD v4: 11-2165025-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165026_2165027del , CM000673.2:g.2165026_2165027del	GRCh38
NC_000011.9:g.2186256_2186257del , CM000673.1:g.2186256_2186257del	GRCh37
NC_000011.8:g.2142832_2142833del	NCBI36
NG_007114.1:g.1168_1169del
NG_008128.1:g.11779_11780del
NG_050578.1:g.1183_1184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+205_1334+206del MANE Select	ENSP00000325951.4:n.1334+205_1334+206del
ENST00000333684.9:c.1052+205_1052+206del	ENSP00000328814.6:n.1052+205_1052+206del
ENST00000352909.7:c.1334+205_1334+206del	ENSP00000325951.3:n.1334+205_1334+206del
ENST00000381175.5:c.1415+205_1415+206del	ENSP00000370567.1:n.1415+205_1415+206del
ENST00000381178.5:c.1427+205_1427+206del	ENSP00000370571.1:n.1427+205_1427+206del
NM_000360.3:c.1334+205_1334+206del	NP_000351.2:n.1334+205_1334+206del
NM_199292.2:c.1427+205_1427+206del	NP_954986.2:n.1427+205_1427+206del
NM_199293.2:c.1415+205_1415+206del	NP_954987.2:n.1415+205_1415+206del
XM_011520335.1:c.1346+205_1346+206del	XP_011518637.1:n.1346+205_1346+206del
XM_011520335.2:c.1346+205_1346+206del	XP_011518637.1:n.1346+205_1346+206del
NM_000360.4:c.1334+205_1334+206del MANE Select	NP_000351.2:n.1334+205_1334+206del
NM_199292.3:c.1427+205_1427+206del	NP_954986.2:n.1427+205_1427+206del
NM_199293.3:c.1415+205_1415+206del	NP_954987.2:n.1415+205_1415+206del