Canonical Allele Identifier: CA278537

Gene: TH

Linked Data

• ClinVar Variation Id: 208620
• ClinVar RCV Id: RCV000190632
• dbSNP Id: rs797045111
• MyVariant Identifiers: chr11:g.2190909del (hg19) ; chr11:g.2169679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169680del , CM000673.2:g.2169680del	GRCh38
NC_000011.9:g.2190910del , CM000673.1:g.2190910del	GRCh37
NC_000011.8:g.2147486del	NCBI36
NG_008128.1:g.7127del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.283del MANE Select	ENSP00000325951.4:p.Ala95ArgfsTer6
ENST00000324155.8:c.107del	ENSP00000325831.3:p.Gly36AlafsTer?
ENST00000333684.9:c.283del	ENSP00000328814.6:p.Ala95ArgfsTer6
ENST00000352909.7:c.283del	ENSP00000325951.3:p.Ala95ArgfsTer6
ENST00000381168.7:c.119del	ENSP00000370560.3:p.Gly40AlafsTer?
ENST00000381175.5:c.364del	ENSP00000370567.1:p.Ala122ArgfsTer6
ENST00000381178.5:c.376del	ENSP00000370571.1:p.Ala126ArgfsTer6
NM_000360.3:c.283del	NP_000351.2:p.Ala95ArgfsTer6
NM_199292.2:c.376del	NP_954986.2:p.Ala126ArgfsTer6
NM_199293.2:c.364del	NP_954987.2:p.Ala122ArgfsTer6
XM_011520335.1:c.295del	XP_011518637.1:p.Ala99ArgfsTer6
XM_011520335.2:c.295del	XP_011518637.1:p.Ala99ArgfsTer6
NM_000360.4:c.283del MANE Select	NP_000351.2:p.Ala95ArgfsTer6
NM_199292.3:c.376del	NP_954986.2:p.Ala126ArgfsTer6
NM_199293.3:c.364del	NP_954987.2:p.Ala122ArgfsTer6