Canonical Allele Identifier: CA1948007037

Gene: TH

Linked Data

• dbSNP Id: rs1846139421

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167785_2167786del , CM000673.2:g.2167785_2167786del	GRCh38
NC_000011.9:g.2189015_2189016del , CM000673.1:g.2189015_2189016del	GRCh37
NC_000011.8:g.2145591_2145592del	NCBI36
NG_008128.1:g.9020_9021del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.644+80_644+81del MANE Select	ENSP00000325951.4:n.644+80_644+81del
ENST00000324155.8:c.*333+80_*333+81del	ENSP00000325831.3:n.*333+80_*333+81del
ENST00000333684.9:c.644+80_644+81del	ENSP00000328814.6:n.644+80_644+81del
ENST00000352909.7:c.644+80_644+81del	ENSP00000325951.3:n.644+80_644+81del
ENST00000381168.7:c.*333+80_*333+81del	ENSP00000370560.3:n.*333+80_*333+81del
ENST00000381175.5:c.725+80_725+81del	ENSP00000370567.1:n.725+80_725+81del
ENST00000381178.5:c.737+80_737+81del	ENSP00000370571.1:n.737+80_737+81del
ENST00000412076.1:c.84+80_84+81del
ENST00000416223.5:c.84+80_84+81del
ENST00000469226.1:n.473_474del
NM_000360.3:c.644+80_644+81del	NP_000351.2:n.644+80_644+81del
NM_199292.2:c.737+80_737+81del	NP_954986.2:n.737+80_737+81del
NM_199293.2:c.725+80_725+81del	NP_954987.2:n.725+80_725+81del
XM_011520335.1:c.656+80_656+81del	XP_011518637.1:n.656+80_656+81del
XM_011520335.2:c.656+80_656+81del	XP_011518637.1:n.656+80_656+81del
NM_000360.4:c.644+80_644+81del MANE Select	NP_000351.2:n.644+80_644+81del
NM_199292.3:c.737+80_737+81del	NP_954986.2:n.737+80_737+81del
NM_199293.3:c.725+80_725+81del	NP_954987.2:n.725+80_725+81del