Canonical Allele Identifier: CA2611961559

Gene: TH

Linked Data

• gnomAD v4: 11-2166492-C-CCCCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166492_2166493insCCCTGA , CM000673.2:g.2166492_2166493insCCCTGA	GRCh38
NC_000011.9:g.2187722_2187723insCCCTGA , CM000673.1:g.2187722_2187723insCCCTGA	GRCh37
NC_000011.8:g.2144298_2144299insCCCTGA	NCBI36
NG_008128.1:g.10313_10314insTCAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1034_1035insTCAGGG MANE Select	ENSP00000325951.4:p.Ala345_Gln346insGlnGly
ENST00000324155.8:c.*723_*724insTCAGGG	ENSP00000325831.3:n.*723_*724insTCAGGG
ENST00000333684.9:c.752_753insTCAGGG	ENSP00000328814.6:p.Ala251_Gln252insGlnGly
ENST00000352909.7:c.1034_1035insTCAGGG	ENSP00000325951.3:p.Ala345_Gln346insGlnGly
ENST00000381168.7:c.*754_*755insTCAGGG	ENSP00000370560.3:n.*754_*755insTCAGGG
ENST00000381175.5:c.1115_1116insTCAGGG	ENSP00000370567.1:p.Ala372_Gln373insGlnGly
ENST00000381178.5:c.1127_1128insTCAGGG	ENSP00000370571.1:p.Ala376_Gln377insGlnGly
ENST00000412076.1:c.192_193insTCAGGG
ENST00000416223.5:c.328_329insTCAGGG
ENST00000461172.1:n.199_200insTCAGGG
ENST00000479437.5:n.583_584insTCAGGG
NM_000360.3:c.1034_1035insTCAGGG	NP_000351.2:p.Ala345_Gln346insGlnGly
NM_199292.2:c.1127_1128insTCAGGG	NP_954986.2:p.Ala376_Gln377insGlnGly
NM_199293.2:c.1115_1116insTCAGGG	NP_954987.2:p.Ala372_Gln373insGlnGly
XM_011520335.1:c.1046_1047insTCAGGG	XP_011518637.1:p.Ala349_Gln350insGlnGly
XM_011520335.2:c.1046_1047insTCAGGG	XP_011518637.1:p.Ala349_Gln350insGlnGly
NM_000360.4:c.1034_1035insTCAGGG MANE Select	NP_000351.2:p.Ala345_Gln346insGlnGly
NM_199292.3:c.1127_1128insTCAGGG	NP_954986.2:p.Ala376_Gln377insGlnGly
NM_199293.3:c.1115_1116insTCAGGG	NP_954987.2:p.Ala372_Gln373insGlnGly