Canonical Allele Identifier: CA2574757190

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167947_2167957del , CM000673.2:g.2167947_2167957del	GRCh38
NC_000011.9:g.2189177_2189187del , CM000673.1:g.2189177_2189187del	GRCh37
NC_000011.8:g.2145753_2145763del	NCBI36
NG_008128.1:g.8851_8861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.577-22_577-12del MANE Select	ENSP00000325951.4:n.577-22_577-12del
ENST00000324155.8:c.*266-22_*266-12del	ENSP00000325831.3:n.*266-22_*266-12del
ENST00000333684.9:c.577-22_577-12del	ENSP00000328814.6:n.577-22_577-12del
ENST00000352909.7:c.577-22_577-12del	ENSP00000325951.3:n.577-22_577-12del
ENST00000381168.7:c.*266-22_*266-12del	ENSP00000370560.3:n.*266-22_*266-12del
ENST00000381175.5:c.658-22_658-12del	ENSP00000370567.1:n.658-22_658-12del
ENST00000381178.5:c.670-22_670-12del	ENSP00000370571.1:n.670-22_670-12del
ENST00000412076.1:c.17-22_17-12del
ENST00000416223.5:c.17-22_17-12del
ENST00000469226.1:n.326-22_326-12del
NM_000360.3:c.577-22_577-12del	NP_000351.2:n.577-22_577-12del
NM_199292.2:c.670-22_670-12del	NP_954986.2:n.670-22_670-12del
NM_199293.2:c.658-22_658-12del	NP_954987.2:n.658-22_658-12del
XM_011520335.1:c.589-22_589-12del	XP_011518637.1:n.589-22_589-12del
XM_011520335.2:c.589-22_589-12del	XP_011518637.1:n.589-22_589-12del
NM_000360.4:c.577-22_577-12del MANE Select	NP_000351.2:n.577-22_577-12del
NM_199292.3:c.670-22_670-12del	NP_954986.2:n.670-22_670-12del
NM_199293.3:c.658-22_658-12del	NP_954987.2:n.658-22_658-12del