Canonical Allele Identifier: CA1948006043

Gene: TH

Linked Data

• dbSNP Id: rs1846115791

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167005del , CM000673.2:g.2167005del	GRCh38
NC_000011.9:g.2188235del , CM000673.1:g.2188235del	GRCh37
NC_000011.8:g.2144811del	NCBI36
NG_008128.1:g.9802del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.724del MANE Select	ENSP00000325951.4:p.Leu242SerfsTer?
ENST00000324155.8:c.*413del	ENSP00000325831.3:n.*413del
ENST00000333684.9:c.695+431del	ENSP00000328814.6:n.695+431del
ENST00000352909.7:c.724del	ENSP00000325951.3:p.Leu242SerfsTer?
ENST00000381168.7:c.*444del	ENSP00000370560.3:n.*444del
ENST00000381175.5:c.805del	ENSP00000370567.1:p.Leu269SerfsTer?
ENST00000381178.5:c.817del	ENSP00000370571.1:p.Leu273SerfsTer?
ENST00000412076.1:c.135+431del
ENST00000416223.5:c.136-236del
ENST00000469226.1:n.853del
ENST00000479437.5:n.273del
NM_000360.3:c.724del	NP_000351.2:p.Leu242SerfsTer?
NM_199292.2:c.817del	NP_954986.2:p.Leu273SerfsTer?
NM_199293.2:c.805del	NP_954987.2:p.Leu269SerfsTer?
XM_011520335.1:c.736del	XP_011518637.1:p.Leu246SerfsTer?
XM_011520335.2:c.736del	XP_011518637.1:p.Leu246SerfsTer?
NM_000360.4:c.724del MANE Select	NP_000351.2:p.Leu242SerfsTer?
NM_199292.3:c.817del	NP_954986.2:p.Leu273SerfsTer?
NM_199293.3:c.805del	NP_954987.2:p.Leu269SerfsTer?