Canonical Allele Identifier: CA934419416

Gene: TH

Linked Data

• gnomAD v3: 11-2167040-CA-C
• gnomAD v4: 11-2167040-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167041del , CM000673.2:g.2167041del	GRCh38
NC_000011.9:g.2188271del , CM000673.1:g.2188271del	GRCh37
NC_000011.8:g.2144847del	NCBI36
NG_008128.1:g.9765del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-9del MANE Select	ENSP00000325951.4:n.696-9del
ENST00000324155.8:c.*385-9del	ENSP00000325831.3:n.*385-9del
ENST00000333684.9:c.695+394del	ENSP00000328814.6:n.695+394del
ENST00000352909.7:c.696-9del	ENSP00000325951.3:n.696-9del
ENST00000381168.7:c.*416-9del	ENSP00000370560.3:n.*416-9del
ENST00000381175.5:c.777-9del	ENSP00000370567.1:n.777-9del
ENST00000381178.5:c.789-9del	ENSP00000370571.1:n.789-9del
ENST00000412076.1:c.135+394del
ENST00000416223.5:c.136-273del
ENST00000469226.1:n.825-9del
ENST00000479437.5:n.236del
NM_000360.3:c.696-9del	NP_000351.2:n.696-9del
NM_199292.2:c.789-9del	NP_954986.2:n.789-9del
NM_199293.2:c.777-9del	NP_954987.2:n.777-9del
XM_011520335.1:c.708-9del	XP_011518637.1:n.708-9del
XM_011520335.2:c.708-9del	XP_011518637.1:n.708-9del
NM_000360.4:c.696-9del MANE Select	NP_000351.2:n.696-9del
NM_199292.3:c.789-9del	NP_954986.2:n.789-9del
NM_199293.3:c.777-9del	NP_954987.2:n.777-9del