Canonical Allele Identifier: CA2611962901

Gene: TH

Linked Data

• gnomAD v4: 11-2166651-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166653_2166654del , CM000673.2:g.2166653_2166654del	GRCh38
NC_000011.9:g.2187883_2187884del , CM000673.1:g.2187883_2187884del	GRCh37
NC_000011.8:g.2144459_2144460del	NCBI36
NG_008128.1:g.10153_10154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.957_958del MANE Select	ENSP00000325951.4:p.Pro320HisfsTer5
ENST00000324155.8:c.*646_*647del	ENSP00000325831.3:n.*646_*647del
ENST00000333684.9:c.696-104_696-103del	ENSP00000328814.6:n.696-104_696-103del
ENST00000352909.7:c.957_958del	ENSP00000325951.3:p.Pro320HisfsTer5
ENST00000381168.7:c.*677_*678del	ENSP00000370560.3:n.*677_*678del
ENST00000381175.5:c.1038_1039del	ENSP00000370567.1:p.Pro347HisfsTer5
ENST00000381178.5:c.1050_1051del	ENSP00000370571.1:p.Pro351HisfsTer5
ENST00000412076.1:c.136-104_136-103del
ENST00000416223.5:c.251_252del
ENST00000461172.1:n.122_123del
ENST00000479437.5:n.506_507del
NM_000360.3:c.957_958del	NP_000351.2:p.Pro320HisfsTer5
NM_199292.2:c.1050_1051del	NP_954986.2:p.Pro351HisfsTer5
NM_199293.2:c.1038_1039del	NP_954987.2:p.Pro347HisfsTer5
XM_011520335.1:c.969_970del	XP_011518637.1:p.Pro324HisfsTer5
XM_011520335.2:c.969_970del	XP_011518637.1:p.Pro324HisfsTer5
NM_000360.4:c.957_958del MANE Select	NP_000351.2:p.Pro320HisfsTer5
NM_199292.3:c.1050_1051del	NP_954986.2:p.Pro351HisfsTer5
NM_199293.3:c.1038_1039del	NP_954987.2:p.Pro347HisfsTer5