Canonical Allele Identifier: CA912971951

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2192923dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2171694dup , CM000673.2:g.2171694dup	GRCh38
NC_000011.9:g.2192924dup , CM000673.1:g.2192924dup	GRCh37
NC_000011.8:g.2149500dup	NCBI36
NG_008128.1:g.5113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.90+4dup MANE Select	ENSP00000325951.4:n.90+4dup
ENST00000324155.8:c.90+4dup	ENSP00000325831.3:n.90+4dup
ENST00000333684.9:c.90+4dup	ENSP00000328814.6:n.90+4dup
ENST00000352909.7:c.90+4dup	ENSP00000325951.3:n.90+4dup
ENST00000381168.7:c.94dup	ENSP00000370560.3:p.Arg32LysfsTer15
ENST00000381175.5:c.90+4dup	ENSP00000370567.1:n.90+4dup
ENST00000381178.5:c.94dup	ENSP00000370571.1:p.Arg32LysfsTer?
NM_000360.3:c.90+4dup	NP_000351.2:n.90+4dup
NM_199292.2:c.94dup	NP_954986.2:p.Arg32LysfsTer?
NM_199293.2:c.90+4dup	NP_954987.2:n.90+4dup
XM_011520335.1:c.94dup	XP_011518637.1:p.Arg32LysfsTer?
XM_011520335.2:c.94dup	XP_011518637.1:p.Arg32LysfsTer?
NM_000360.4:c.90+4dup MANE Select	NP_000351.2:n.90+4dup
NM_199292.3:c.94dup	NP_954986.2:p.Arg32LysfsTer?
NM_199293.3:c.90+4dup	NP_954987.2:n.90+4dup