Canonical Allele Identifier: CA2611962772

Gene: TH

Linked Data

• gnomAD v4: 11-2166638-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166642del , CM000673.2:g.2166642del	GRCh38
NC_000011.9:g.2187872del , CM000673.1:g.2187872del	GRCh37
NC_000011.8:g.2144448del	NCBI36
NG_008128.1:g.10167del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.971del MANE Select	ENSP00000325951.4:p.Pro324LeufsTer?
ENST00000324155.8:c.*660del	ENSP00000325831.3:n.*660del
ENST00000333684.9:c.696-90del	ENSP00000328814.6:n.696-90del
ENST00000352909.7:c.971del	ENSP00000325951.3:p.Pro324LeufsTer?
ENST00000381168.7:c.*691del	ENSP00000370560.3:n.*691del
ENST00000381175.5:c.1052del	ENSP00000370567.1:p.Pro351LeufsTer?
ENST00000381178.5:c.1064del	ENSP00000370571.1:p.Pro355LeufsTer?
ENST00000412076.1:c.136-90del
ENST00000416223.5:c.265del
ENST00000461172.1:n.136del
ENST00000479437.5:n.520del
NM_000360.3:c.971del	NP_000351.2:p.Pro324LeufsTer?
NM_199292.2:c.1064del	NP_954986.2:p.Pro355LeufsTer?
NM_199293.2:c.1052del	NP_954987.2:p.Pro351LeufsTer?
XM_011520335.1:c.983del	XP_011518637.1:p.Pro328LeufsTer?
XM_011520335.2:c.983del	XP_011518637.1:p.Pro328LeufsTer?
NM_000360.4:c.971del MANE Select	NP_000351.2:p.Pro324LeufsTer?
NM_199292.3:c.1064del	NP_954986.2:p.Pro355LeufsTer?
NM_199293.3:c.1052del	NP_954987.2:p.Pro351LeufsTer?