Canonical Allele Identifier: CA1948005791

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166905_2166906delinsCG , CM000673.2:g.2166905_2166906delinsCG	GRCh38
NC_000011.9:g.2188135_2188136delinsCG , CM000673.1:g.2188135_2188136delinsCG	GRCh37
NC_000011.8:g.2144711_2144712delinsCG	NCBI36
NG_008128.1:g.9900_9901delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.822_823delinsCG MANE Select	ENSP00000325951.4:p.Asp274=
ENST00000324155.8:c.*511_*512delinsCG	ENSP00000325831.3:n.*511_*512delinsCG
ENST00000333684.9:c.696-357_696-356delinsCG	ENSP00000328814.6:n.696-357_696-356delinsCG
ENST00000352909.7:c.822_823delinsCG	ENSP00000325951.3:p.Asp274=
ENST00000381168.7:c.*542_*543delinsCG	ENSP00000370560.3:n.*542_*543delinsCG
ENST00000381175.5:c.903_904delinsCG	ENSP00000370567.1:p.Asp301=
ENST00000381178.5:c.915_916delinsCG	ENSP00000370571.1:p.Asp305=
ENST00000412076.1:c.136-357_136-356delinsCG
ENST00000416223.5:c.136-138_136-137delinsCG
ENST00000469226.1:n.951_952delinsCG
ENST00000479437.5:n.371_372delinsCG
NM_000360.3:c.822_823delinsCG	NP_000351.2:p.Asp274=
NM_199292.2:c.915_916delinsCG	NP_954986.2:p.Asp305=
NM_199293.2:c.903_904delinsCG	NP_954987.2:p.Asp301=
XM_011520335.1:c.834_835delinsCG	XP_011518637.1:p.Asp278=
XM_011520335.2:c.834_835delinsCG	XP_011518637.1:p.Asp278=
NM_000360.4:c.822_823delinsCG MANE Select	NP_000351.2:p.Asp274=
NM_199292.3:c.915_916delinsCG	NP_954986.2:p.Asp305=
NM_199293.3:c.903_904delinsCG	NP_954987.2:p.Asp301=