Canonical Allele Identifier: CA934419434

Gene: TH

Linked Data

• gnomAD v3: 11-2167100-GTGGGT-G
• gnomAD v4: 11-2167100-GTGGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167101_2167105del , CM000673.2:g.2167101_2167105del	GRCh38
NC_000011.9:g.2188331_2188335del , CM000673.1:g.2188331_2188335del	GRCh37
NC_000011.8:g.2144907_2144911del	NCBI36
NG_008128.1:g.9701_9705del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-73_696-69del MANE Select	ENSP00000325951.4:n.696-73_696-69del
ENST00000324155.8:c.*385-73_*385-69del	ENSP00000325831.3:n.*385-73_*385-69del
ENST00000333684.9:c.695+330_695+334del	ENSP00000328814.6:n.695+330_695+334del
ENST00000352909.7:c.696-73_696-69del	ENSP00000325951.3:n.696-73_696-69del
ENST00000381168.7:c.*416-73_*416-69del	ENSP00000370560.3:n.*416-73_*416-69del
ENST00000381175.5:c.777-73_777-69del	ENSP00000370567.1:n.777-73_777-69del
ENST00000381178.5:c.789-73_789-69del	ENSP00000370571.1:n.789-73_789-69del
ENST00000412076.1:c.135+330_135+334del
ENST00000416223.5:c.135+330_136-333del
ENST00000469226.1:n.825-73_825-69del
ENST00000479437.5:n.172_176del
NM_000360.3:c.696-73_696-69del	NP_000351.2:n.696-73_696-69del
NM_199292.2:c.789-73_789-69del	NP_954986.2:n.789-73_789-69del
NM_199293.2:c.777-73_777-69del	NP_954987.2:n.777-73_777-69del
XM_011520335.1:c.708-73_708-69del	XP_011518637.1:n.708-73_708-69del
XM_011520335.2:c.708-73_708-69del	XP_011518637.1:n.708-73_708-69del
NM_000360.4:c.696-73_696-69del MANE Select	NP_000351.2:n.696-73_696-69del
NM_199292.3:c.789-73_789-69del	NP_954986.2:n.789-73_789-69del
NM_199293.3:c.777-73_777-69del	NP_954987.2:n.777-73_777-69del