Canonical Allele Identifier: CA2611979891

Gene: TH

Linked Data

• gnomAD v4: 11-2169765-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169769del , CM000673.2:g.2169769del	GRCh38
NC_000011.9:g.2190999del , CM000673.1:g.2190999del	GRCh37
NC_000011.8:g.2147575del	NCBI36
NG_008128.1:g.7040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.196del MANE Select	ENSP00000325951.4:p.Asp66ThrfsTer17
ENST00000324155.8:c.91-71del	ENSP00000325831.3:n.91-71del
ENST00000333684.9:c.196del	ENSP00000328814.6:p.Asp66ThrfsTer17
ENST00000352909.7:c.196del	ENSP00000325951.3:p.Asp66ThrfsTer17
ENST00000381168.7:c.103-71del	ENSP00000370560.3:n.103-71del
ENST00000381175.5:c.277del	ENSP00000370567.1:p.Asp93ThrfsTer17
ENST00000381178.5:c.289del	ENSP00000370571.1:p.Asp97ThrfsTer17
NM_000360.3:c.196del	NP_000351.2:p.Asp66ThrfsTer17
NM_199292.2:c.289del	NP_954986.2:p.Asp97ThrfsTer17
NM_199293.2:c.277del	NP_954987.2:p.Asp93ThrfsTer17
XM_011520335.1:c.208del	XP_011518637.1:p.Asp70ThrfsTer17
XM_011520335.2:c.208del	XP_011518637.1:p.Asp70ThrfsTer17
NM_000360.4:c.196del MANE Select	NP_000351.2:p.Asp66ThrfsTer17
NM_199292.3:c.289del	NP_954986.2:p.Asp97ThrfsTer17
NM_199293.3:c.277del	NP_954987.2:p.Asp93ThrfsTer17