Canonical Allele Identifier: CA2739276094

Gene: TH

Linked Data

• ClinVar Variation Id: 2857386
• ClinVar RCV Id: RCV003625962

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166695del , CM000673.2:g.2166695del	GRCh38
NC_000011.9:g.2187925del , CM000673.1:g.2187925del	GRCh37
NC_000011.8:g.2144501del	NCBI36
NG_008128.1:g.10112del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.916del MANE Select	ENSP00000325951.4:p.Arg306AlafsTer?
ENST00000324155.8:c.*605del	ENSP00000325831.3:n.*605del
ENST00000333684.9:c.696-145del	ENSP00000328814.6:n.696-145del
ENST00000352909.7:c.916del	ENSP00000325951.3:p.Arg306AlafsTer?
ENST00000381168.7:c.*636del	ENSP00000370560.3:n.*636del
ENST00000381175.5:c.997del	ENSP00000370567.1:p.Arg333AlafsTer?
ENST00000381178.5:c.1009del	ENSP00000370571.1:p.Arg337AlafsTer?
ENST00000412076.1:c.136-145del
ENST00000416223.5:c.210del
ENST00000461172.1:n.81del
ENST00000479437.5:n.465del
NM_000360.3:c.916del	NP_000351.2:p.Arg306AlafsTer?
NM_199292.2:c.1009del	NP_954986.2:p.Arg337AlafsTer?
NM_199293.2:c.997del	NP_954987.2:p.Arg333AlafsTer?
XM_011520335.1:c.928del	XP_011518637.1:p.Arg310AlafsTer?
XM_011520335.2:c.928del	XP_011518637.1:p.Arg310AlafsTer?
NM_000360.4:c.916del MANE Select	NP_000351.2:p.Arg306AlafsTer?
NM_199292.3:c.1009del	NP_954986.2:p.Arg337AlafsTer?
NM_199293.3:c.997del	NP_954987.2:p.Arg333AlafsTer?