Canonical Allele Identifier: CA2611972392

Gene: TH

Linked Data

• gnomAD v4: 11-2165432-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165434del , CM000673.2:g.2165434del	GRCh38
NC_000011.9:g.2186664del , CM000673.1:g.2186664del	GRCh37
NC_000011.8:g.2143240del	NCBI36
NG_007114.1:g.762del
NG_008128.1:g.11373del
NG_050578.1:g.777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1201-68del MANE Select	ENSP00000325951.4:n.1201-68del
ENST00000324155.8:c.*890-68del	ENSP00000325831.3:n.*890-68del
ENST00000333684.9:c.919-68del	ENSP00000328814.6:n.919-68del
ENST00000352909.7:c.1201-68del	ENSP00000325951.3:n.1201-68del
ENST00000381175.5:c.1282-68del	ENSP00000370567.1:n.1282-68del
ENST00000381178.5:c.1294-68del	ENSP00000370571.1:n.1294-68del
NM_000360.3:c.1201-68del	NP_000351.2:n.1201-68del
NM_199292.2:c.1294-68del	NP_954986.2:n.1294-68del
NM_199293.2:c.1282-68del	NP_954987.2:n.1282-68del
XM_011520335.1:c.1213-68del	XP_011518637.1:n.1213-68del
XM_011520335.2:c.1213-68del	XP_011518637.1:n.1213-68del
NM_000360.4:c.1201-68del MANE Select	NP_000351.2:n.1201-68del
NM_199292.3:c.1294-68del	NP_954986.2:n.1294-68del
NM_199293.3:c.1282-68del	NP_954987.2:n.1282-68del