Canonical Allele Identifier: CA2611961584

Gene: TH

Linked Data

• gnomAD v4: 11-2166494-C-CGTCCAGGACACTGGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166495_2166496insTCCAGGACACTGGCCAG , CM000673.2:g.2166495_2166496insTCCAGGACACTGGCCAG	GRCh38
NC_000011.9:g.2187725_2187726insTCCAGGACACTGGCCAG , CM000673.1:g.2187725_2187726insTCCAGGACACTGGCCAG	GRCh37
NC_000011.8:g.2144301_2144302insTCCAGGACACTGGCCAG	NCBI36
NG_008128.1:g.10311_10312insTGGCCAGTGTCCTGGAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.1032_1033insTGGCCAGTGTCCTGGAC MANE Select	ENSP00000325951.4:p.Ala345TrpfsTer?
ENST00000324155.8:c.*721_*722insTGGCCAGTGTCCTGGAC	ENSP00000325831.3:n.*721_*722insTGGCCAGTGTCCTGGAC
ENST00000333684.9:c.750_751insTGGCCAGTGTCCTGGAC	ENSP00000328814.6:p.Ala251TrpfsTer?
ENST00000352909.7:c.1032_1033insTGGCCAGTGTCCTGGAC	ENSP00000325951.3:p.Ala345TrpfsTer?
ENST00000381168.7:c.*752_*753insTGGCCAGTGTCCTGGAC	ENSP00000370560.3:n.*752_*753insTGGCCAGTGTCCTGGAC
ENST00000381175.5:c.1113_1114insTGGCCAGTGTCCTGGAC	ENSP00000370567.1:p.Ala372TrpfsTer?
ENST00000381178.5:c.1125_1126insTGGCCAGTGTCCTGGAC	ENSP00000370571.1:p.Ala376TrpfsTer?
ENST00000412076.1:c.190_191insTGGCCAGTGTCCTGGAC
ENST00000416223.5:c.326_327insTGGCCAGTGTCCTGGAC
ENST00000461172.1:n.197_198insTGGCCAGTGTCCTGGAC
ENST00000479437.5:n.581_582insTGGCCAGTGTCCTGGAC
NM_000360.3:c.1032_1033insTGGCCAGTGTCCTGGAC	NP_000351.2:p.Ala345TrpfsTer?
NM_199292.2:c.1125_1126insTGGCCAGTGTCCTGGAC	NP_954986.2:p.Ala376TrpfsTer?
NM_199293.2:c.1113_1114insTGGCCAGTGTCCTGGAC	NP_954987.2:p.Ala372TrpfsTer?
XM_011520335.1:c.1044_1045insTGGCCAGTGTCCTGGAC	XP_011518637.1:p.Ala349TrpfsTer?
XM_011520335.2:c.1044_1045insTGGCCAGTGTCCTGGAC	XP_011518637.1:p.Ala349TrpfsTer?
NM_000360.4:c.1032_1033insTGGCCAGTGTCCTGGAC MANE Select	NP_000351.2:p.Ala345TrpfsTer?
NM_199292.3:c.1125_1126insTGGCCAGTGTCCTGGAC	NP_954986.2:p.Ala376TrpfsTer?
NM_199293.3:c.1113_1114insTGGCCAGTGTCCTGGAC	NP_954987.2:p.Ala372TrpfsTer?