Canonical Allele Identifier: CA2611971192

Gene: TH

Linked Data

• gnomAD v4: 11-2165104-A-AAGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165105_2165106insGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTCA , CM000673.2:g.2165105_2165106insGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTCA	GRCh38
NC_000011.9:g.2186335_2186336insGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTCA , CM000673.1:g.2186335_2186336insGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTCA	GRCh37
NC_000011.8:g.2142911_2142912insGGAGAGACTCTCACCAGGAGCTCCCCGTAGGAGGACAGCAGCCCGGCACCATAGGCCTTCA	NCBI36
NG_007114.1:g.1090_1091insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT
NG_008128.1:g.11701_11702insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT
NG_050578.1:g.1105_1106insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT MANE Select	ENSP00000325951.4:n.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCT...
ENST00000333684.9:c.1052+127_1052+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	ENSP00000328814.6:n.1052+127_1052+128insGAAGGCCTATGGTGCCGGGCT...
ENST00000352909.7:c.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	ENSP00000325951.3:n.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCT...
ENST00000381175.5:c.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	ENSP00000370567.1:n.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCT...
ENST00000381178.5:c.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	ENSP00000370571.1:n.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCT...
NM_000360.3:c.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	NP_000351.2:n.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...
NM_199292.2:c.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	NP_954986.2:n.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...
NM_199293.2:c.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	NP_954987.2:n.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...
XM_011520335.1:c.1346+127_1346+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	XP_011518637.1:n.1346+127_1346+128insGAAGGCCTATGGTGCCGGGCTGCT...
XM_011520335.2:c.1346+127_1346+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	XP_011518637.1:n.1346+127_1346+128insGAAGGCCTATGGTGCCGGGCTGCT...
NM_000360.4:c.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT MANE Select	NP_000351.2:n.1334+127_1334+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...
NM_199292.3:c.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	NP_954986.2:n.1427+127_1427+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...
NM_199293.3:c.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCTGCTGTCCTCCTACGGGGAGCTCCTGGTGAGAGTCTCTCCT	NP_954987.2:n.1415+127_1415+128insGAAGGCCTATGGTGCCGGGCTGCTGTC...