Canonical Allele Identifier: CA2611980256

Gene: TH

Linked Data

• gnomAD v4: 11-2169866-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169870del , CM000673.2:g.2169870del	GRCh38
NC_000011.9:g.2191100del , CM000673.1:g.2191100del	GRCh37
NC_000011.8:g.2147676del	NCBI36
NG_008128.1:g.6939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.95del MANE Select	ENSP00000325951.4:p.Pro32ArgfsTer?
ENST00000324155.8:c.91-172del	ENSP00000325831.3:n.91-172del
ENST00000333684.9:c.95del	ENSP00000328814.6:p.Pro32ArgfsTer?
ENST00000352909.7:c.95del	ENSP00000325951.3:p.Pro32ArgfsTer?
ENST00000381168.7:c.103-172del	ENSP00000370560.3:n.103-172del
ENST00000381175.5:c.176del	ENSP00000370567.1:p.Pro59ArgfsTer?
ENST00000381178.5:c.188del	ENSP00000370571.1:p.Pro63ArgfsTer?
NM_000360.3:c.95del	NP_000351.2:p.Pro32ArgfsTer?
NM_199292.2:c.188del	NP_954986.2:p.Pro63ArgfsTer?
NM_199293.2:c.176del	NP_954987.2:p.Pro59ArgfsTer?
XM_011520335.1:c.107del	XP_011518637.1:p.Pro36ArgfsTer?
XM_011520335.2:c.107del	XP_011518637.1:p.Pro36ArgfsTer?
NM_000360.4:c.95del MANE Select	NP_000351.2:p.Pro32ArgfsTer?
NM_199292.3:c.188del	NP_954986.2:p.Pro63ArgfsTer?
NM_199293.3:c.176del	NP_954987.2:p.Pro59ArgfsTer?