Canonical Allele Identifier: CA2611982907

Gene: TH

Linked Data

• gnomAD v4: 11-2171541-G-GCTGGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171544_2171545insGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCCCTG , CM000673.2:g.2171544_2171545insGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCCCTG	GRCh38
NC_000011.9:g.2192774_2192775insGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCCCTG , CM000673.1:g.2192774_2192775insGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCCCTG	GRCh37
NC_000011.8:g.2149350_2149351insGGACGCGGCGTGGATGTGGAGGCCTGGGCACAGCGGCATCCCCTG	NCBI36
NG_008128.1:g.5264_5265insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG MANE Select	ENSP00000325951.4:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCC...
ENST00000324155.8:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000325831.3:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCC...
ENST00000333684.9:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000328814.6:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCC...
ENST00000352909.7:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000325951.3:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCC...
ENST00000381168.7:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000370560.3:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCT...
ENST00000381175.5:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000370567.1:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCC...
ENST00000381178.5:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	ENSP00000370571.1:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCT...
NM_000360.3:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	NP_000351.2:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCC...
NM_199292.2:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	NP_954986.2:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACAT...
NM_199293.2:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	NP_954987.2:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCC...
XM_011520335.1:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	XP_011518637.1:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCA...
XM_011520335.2:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	XP_011518637.1:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCA...
NM_000360.4:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG MANE Select	NP_000351.2:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCC...
NM_199292.3:c.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	NP_954986.2:n.102+143_102+144insGGGATGCCGCTGTGCCCAGGCCTCCACAT...
NM_199293.3:c.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCCACGCCGCGTCCCAG	NP_954987.2:n.90+155_90+156insGGGATGCCGCTGTGCCCAGGCCTCCACATCC...