Canonical Allele Identifier: CA2611979055

Gene: TH

Linked Data

• gnomAD v4: 11-2169510-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2169513_2169514del , CM000673.2:g.2169513_2169514del	GRCh38
NC_000011.9:g.2190743_2190744del , CM000673.1:g.2190743_2190744del	GRCh37
NC_000011.8:g.2147319_2147320del	NCBI36
NG_008128.1:g.7294_7295del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.312+138_312+139del MANE Select	ENSP00000325951.4:n.312+138_312+139del
ENST00000324155.8:c.*1+138_*1+139del	ENSP00000325831.3:n.*1+138_*1+139del
ENST00000333684.9:c.312+138_312+139del	ENSP00000328814.6:n.312+138_312+139del
ENST00000352909.7:c.312+138_312+139del	ENSP00000325951.3:n.312+138_312+139del
ENST00000381168.7:c.*1+138_*1+139del	ENSP00000370560.3:n.*1+138_*1+139del
ENST00000381175.5:c.393+138_393+139del	ENSP00000370567.1:n.393+138_393+139del
ENST00000381178.5:c.405+138_405+139del	ENSP00000370571.1:n.405+138_405+139del
NM_000360.3:c.312+138_312+139del	NP_000351.2:n.312+138_312+139del
NM_199292.2:c.405+138_405+139del	NP_954986.2:n.405+138_405+139del
NM_199293.2:c.393+138_393+139del	NP_954987.2:n.393+138_393+139del
XM_011520335.1:c.324+138_324+139del	XP_011518637.1:n.324+138_324+139del
XM_011520335.2:c.324+138_324+139del	XP_011518637.1:n.324+138_324+139del
NM_000360.4:c.312+138_312+139del MANE Select	NP_000351.2:n.312+138_312+139del
NM_199292.3:c.405+138_405+139del	NP_954986.2:n.405+138_405+139del
NM_199293.3:c.393+138_393+139del	NP_954987.2:n.393+138_393+139del