Canonical Allele Identifier: CA16041464

Gene: TH

Linked Data

• ClinVar Variation Id: 370714
• ClinVar RCV Id: RCV000409078
• dbSNP Id: rs1057516712
• MyVariant Identifiers: chr11:g.2188241del (hg19) ; chr11:g.2167011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167011del , CM000673.2:g.2167011del	GRCh38
NC_000011.9:g.2188241del , CM000673.1:g.2188241del	GRCh37
NC_000011.8:g.2144817del	NCBI36
NG_008128.1:g.9795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.717del MANE Select	ENSP00000325951.4:p.Lys240ArgfsTer?
ENST00000324155.8:c.*406del	ENSP00000325831.3:n.*406del
ENST00000333684.9:c.695+424del	ENSP00000328814.6:n.695+424del
ENST00000352909.7:c.717del	ENSP00000325951.3:p.Lys240ArgfsTer?
ENST00000381168.7:c.*437del	ENSP00000370560.3:n.*437del
ENST00000381175.5:c.798del	ENSP00000370567.1:p.Lys267ArgfsTer?
ENST00000381178.5:c.810del	ENSP00000370571.1:p.Lys271ArgfsTer?
ENST00000412076.1:c.135+424del
ENST00000416223.5:c.136-243del
ENST00000469226.1:n.846del
ENST00000479437.5:n.266del
NM_000360.3:c.717del	NP_000351.2:p.Lys240ArgfsTer?
NM_199292.2:c.810del	NP_954986.2:p.Lys271ArgfsTer?
NM_199293.2:c.798del	NP_954987.2:p.Lys267ArgfsTer?
XM_011520335.1:c.729del	XP_011518637.1:p.Lys244ArgfsTer?
XM_011520335.2:c.729del	XP_011518637.1:p.Lys244ArgfsTer?
NM_000360.4:c.717del MANE Select	NP_000351.2:p.Lys240ArgfsTer?
NM_199292.3:c.810del	NP_954986.2:p.Lys271ArgfsTer?
NM_199293.3:c.798del	NP_954987.2:p.Lys267ArgfsTer?