Canonical Allele Identifier: CA2697558820

Gene: TH

Linked Data

• ClinVar Variation Id: 2735235
• ClinVar RCV Id: RCV003513603

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167919del , CM000673.2:g.2167919del	GRCh38
NC_000011.9:g.2189149del , CM000673.1:g.2189149del	GRCh37
NC_000011.8:g.2145725del	NCBI36
NG_008128.1:g.8888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.592del MANE Select	ENSP00000325951.4:p.Val198CysfsTer8
ENST00000324155.8:c.*281del	ENSP00000325831.3:n.*281del
ENST00000333684.9:c.592del	ENSP00000328814.6:p.Val198CysfsTer8
ENST00000352909.7:c.592del	ENSP00000325951.3:p.Val198CysfsTer8
ENST00000381168.7:c.*281del	ENSP00000370560.3:n.*281del
ENST00000381175.5:c.673del	ENSP00000370567.1:p.Val225CysfsTer8
ENST00000381178.5:c.685del	ENSP00000370571.1:p.Val229CysfsTer8
ENST00000412076.1:c.32del
ENST00000416223.5:c.32del
ENST00000469226.1:n.341del
NM_000360.3:c.592del	NP_000351.2:p.Val198CysfsTer8
NM_199292.2:c.685del	NP_954986.2:p.Val229CysfsTer8
NM_199293.2:c.673del	NP_954987.2:p.Val225CysfsTer8
XM_011520335.1:c.604del	XP_011518637.1:p.Val202CysfsTer8
XM_011520335.2:c.604del	XP_011518637.1:p.Val202CysfsTer8
NM_000360.4:c.592del MANE Select	NP_000351.2:p.Val198CysfsTer8
NM_199292.3:c.685del	NP_954986.2:p.Val229CysfsTer8
NM_199293.3:c.673del	NP_954987.2:p.Val225CysfsTer8