Canonical Allele Identifier: CA912971959

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2187994dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166764dup , CM000673.2:g.2166764dup	GRCh38
NC_000011.9:g.2187994dup , CM000673.1:g.2187994dup	GRCh37
NC_000011.8:g.2144570dup	NCBI36
NG_008128.1:g.10042dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.846dup MANE Select	ENSP00000325951.4:p.Thr283HisfsTer?
ENST00000324155.8:c.*535dup	ENSP00000325831.3:n.*535dup
ENST00000333684.9:c.696-215dup	ENSP00000328814.6:n.696-215dup
ENST00000352909.7:c.846dup	ENSP00000325951.3:p.Thr283HisfsTer?
ENST00000381168.7:c.*566dup	ENSP00000370560.3:n.*566dup
ENST00000381175.5:c.927dup	ENSP00000370567.1:p.Thr310HisfsTer?
ENST00000381178.5:c.939dup	ENSP00000370571.1:p.Thr314HisfsTer?
ENST00000412076.1:c.136-215dup
ENST00000416223.5:c.140dup
ENST00000461172.1:n.11dup
ENST00000479437.5:n.395dup
NM_000360.3:c.846dup	NP_000351.2:p.Thr283HisfsTer?
NM_199292.2:c.939dup	NP_954986.2:p.Thr314HisfsTer?
NM_199293.2:c.927dup	NP_954987.2:p.Thr310HisfsTer?
XM_011520335.1:c.858dup	XP_011518637.1:p.Thr287HisfsTer?
XM_011520335.2:c.858dup	XP_011518637.1:p.Thr287HisfsTer?
NM_000360.4:c.846dup MANE Select	NP_000351.2:p.Thr283HisfsTer?
NM_199292.3:c.939dup	NP_954986.2:p.Thr314HisfsTer?
NM_199293.3:c.927dup	NP_954987.2:p.Thr310HisfsTer?