Canonical Allele Identifier: CA1948009348

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169514_2169518delinsACTCC , CM000673.2:g.2169514_2169518delinsACTCC	GRCh38
NC_000011.9:g.2190744_2190748delinsACTCC , CM000673.1:g.2190744_2190748delinsACTCC	GRCh37
NC_000011.8:g.2147320_2147324delinsACTCC	NCBI36
NG_008128.1:g.7288_7292delinsGGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.312+132_312+136delinsGGAGT MANE Select	ENSP00000325951.4:n.312+132_312+136delinsGGAGT
ENST00000324155.8:c.*1+132_*1+136delinsGGAGT	ENSP00000325831.3:n.*1+132_*1+136delinsGGAGT
ENST00000333684.9:c.312+132_312+136delinsGGAGT	ENSP00000328814.6:n.312+132_312+136delinsGGAGT
ENST00000352909.7:c.312+132_312+136delinsGGAGT	ENSP00000325951.3:n.312+132_312+136delinsGGAGT
ENST00000381168.7:c.*1+132_*1+136delinsGGAGT	ENSP00000370560.3:n.*1+132_*1+136delinsGGAGT
ENST00000381175.5:c.393+132_393+136delinsGGAGT	ENSP00000370567.1:n.393+132_393+136delinsGGAGT
ENST00000381178.5:c.405+132_405+136delinsGGAGT	ENSP00000370571.1:n.405+132_405+136delinsGGAGT
NM_000360.3:c.312+132_312+136delinsGGAGT	NP_000351.2:n.312+132_312+136delinsGGAGT
NM_199292.2:c.405+132_405+136delinsGGAGT	NP_954986.2:n.405+132_405+136delinsGGAGT
NM_199293.2:c.393+132_393+136delinsGGAGT	NP_954987.2:n.393+132_393+136delinsGGAGT
XM_011520335.1:c.324+132_324+136delinsGGAGT	XP_011518637.1:n.324+132_324+136delinsGGAGT
XM_011520335.2:c.324+132_324+136delinsGGAGT	XP_011518637.1:n.324+132_324+136delinsGGAGT
NM_000360.4:c.312+132_312+136delinsGGAGT MANE Select	NP_000351.2:n.312+132_312+136delinsGGAGT
NM_199292.3:c.405+132_405+136delinsGGAGT	NP_954986.2:n.405+132_405+136delinsGGAGT
NM_199293.3:c.393+132_393+136delinsGGAGT	NP_954987.2:n.393+132_393+136delinsGGAGT