Canonical Allele Identifier: CA2611965068

Gene: TH

Linked Data

• ClinVar Variation Id: 2835823
• ClinVar RCV Id: RCV003625595
• gnomAD v4: 11-2167016-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167018del , CM000673.2:g.2167018del	GRCh38
NC_000011.9:g.2188248del , CM000673.1:g.2188248del	GRCh37
NC_000011.8:g.2144824del	NCBI36
NG_008128.1:g.9789del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.711del MANE Select	ENSP00000325951.4:p.Thr238ArgfsTer2
ENST00000324155.8:c.*400del	ENSP00000325831.3:n.*400del
ENST00000333684.9:c.695+418del	ENSP00000328814.6:n.695+418del
ENST00000352909.7:c.711del	ENSP00000325951.3:p.Thr238ArgfsTer2
ENST00000381168.7:c.*431del	ENSP00000370560.3:n.*431del
ENST00000381175.5:c.792del	ENSP00000370567.1:p.Thr265ArgfsTer2
ENST00000381178.5:c.804del	ENSP00000370571.1:p.Thr269ArgfsTer2
ENST00000412076.1:c.135+418del
ENST00000416223.5:c.136-249del
ENST00000469226.1:n.840del
ENST00000479437.5:n.260del
NM_000360.3:c.711del	NP_000351.2:p.Thr238ArgfsTer2
NM_199292.2:c.804del	NP_954986.2:p.Thr269ArgfsTer2
NM_199293.2:c.792del	NP_954987.2:p.Thr265ArgfsTer2
XM_011520335.1:c.723del	XP_011518637.1:p.Thr242ArgfsTer2
XM_011520335.2:c.723del	XP_011518637.1:p.Thr242ArgfsTer2
NM_000360.4:c.711del MANE Select	NP_000351.2:p.Thr238ArgfsTer2
NM_199292.3:c.804del	NP_954986.2:p.Thr269ArgfsTer2
NM_199293.3:c.792del	NP_954987.2:p.Thr265ArgfsTer2