Canonical Allele Identifier: CA912971948

Gene: TH

Linked Data

• MyVariant Identifiers: chr11:g.2190988_2190989del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169758_2169759del , CM000673.2:g.2169758_2169759del	GRCh38
NC_000011.9:g.2190988_2190989del , CM000673.1:g.2190988_2190989del	GRCh37
NC_000011.8:g.2147564_2147565del	NCBI36
NG_008128.1:g.7047_7048del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.203_204del MANE Select	ENSP00000325951.4:p.Leu68ArgfsTer6
ENST00000324155.8:c.91-64_91-63del	ENSP00000325831.3:n.91-64_91-63del
ENST00000333684.9:c.203_204del	ENSP00000328814.6:p.Leu68ArgfsTer6
ENST00000352909.7:c.203_204del	ENSP00000325951.3:p.Leu68ArgfsTer6
ENST00000381168.7:c.103-64_103-63del	ENSP00000370560.3:n.103-64_103-63del
ENST00000381175.5:c.284_285del	ENSP00000370567.1:p.Leu95ArgfsTer6
ENST00000381178.5:c.296_297del	ENSP00000370571.1:p.Leu99ArgfsTer6
NM_000360.3:c.203_204del	NP_000351.2:p.Leu68ArgfsTer6
NM_199292.2:c.296_297del	NP_954986.2:p.Leu99ArgfsTer6
NM_199293.2:c.284_285del	NP_954987.2:p.Leu95ArgfsTer6
XM_011520335.1:c.215_216del	XP_011518637.1:p.Leu72ArgfsTer6
XM_011520335.2:c.215_216del	XP_011518637.1:p.Leu72ArgfsTer6
NM_000360.4:c.203_204del MANE Select	NP_000351.2:p.Leu68ArgfsTer6
NM_199292.3:c.296_297del	NP_954986.2:p.Leu99ArgfsTer6
NM_199293.3:c.284_285del	NP_954987.2:p.Leu95ArgfsTer6