Canonical Allele Identifier: CA934419420

Gene: TH

Linked Data

• dbSNP Id: rs1846118465
• gnomAD v3: 11-2167064-GCCCCACCC-G
• gnomAD v4: 11-2167064-GCCCCACCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167066_2167073del , CM000673.2:g.2167066_2167073del	GRCh38
NC_000011.9:g.2188296_2188303del , CM000673.1:g.2188296_2188303del	GRCh37
NC_000011.8:g.2144872_2144879del	NCBI36
NG_008128.1:g.9734_9741del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-40_696-33del MANE Select	ENSP00000325951.4:n.696-40_696-33del
ENST00000324155.8:c.*385-40_*385-33del	ENSP00000325831.3:n.*385-40_*385-33del
ENST00000333684.9:c.695+363_695+370del	ENSP00000328814.6:n.695+363_695+370del
ENST00000352909.7:c.696-40_696-33del	ENSP00000325951.3:n.696-40_696-33del
ENST00000381168.7:c.*416-40_*416-33del	ENSP00000370560.3:n.*416-40_*416-33del
ENST00000381175.5:c.777-40_777-33del	ENSP00000370567.1:n.777-40_777-33del
ENST00000381178.5:c.789-40_789-33del	ENSP00000370571.1:n.789-40_789-33del
ENST00000412076.1:c.135+363_135+370del
ENST00000416223.5:c.136-304_136-297del
ENST00000469226.1:n.825-40_825-33del
ENST00000479437.5:n.205_212del
NM_000360.3:c.696-40_696-33del	NP_000351.2:n.696-40_696-33del
NM_199292.2:c.789-40_789-33del	NP_954986.2:n.789-40_789-33del
NM_199293.2:c.777-40_777-33del	NP_954987.2:n.777-40_777-33del
XM_011520335.1:c.708-40_708-33del	XP_011518637.1:n.708-40_708-33del
XM_011520335.2:c.708-40_708-33del	XP_011518637.1:n.708-40_708-33del
NM_000360.4:c.696-40_696-33del MANE Select	NP_000351.2:n.696-40_696-33del
NM_199292.3:c.789-40_789-33del	NP_954986.2:n.789-40_789-33del
NM_199293.3:c.777-40_777-33del	NP_954987.2:n.777-40_777-33del