Canonical Allele Identifier: CA2611963409

Gene: TH

Linked Data

• gnomAD v4: 11-2166697-AGGCCAGGCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166705_2166713del , CM000673.2:g.2166705_2166713del	GRCh38
NC_000011.9:g.2187935_2187943del , CM000673.1:g.2187935_2187943del	GRCh37
NC_000011.8:g.2144511_2144519del	NCBI36
NG_008128.1:g.10100_10108del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.904_912del MANE Select	ENSP00000325951.4:p.Ser302_Ala304del
ENST00000324155.8:c.*593_*601del	ENSP00000325831.3:n.*593_*601del
ENST00000333684.9:c.696-157_696-149del	ENSP00000328814.6:n.696-157_696-149del
ENST00000352909.7:c.904_912del	ENSP00000325951.3:p.Ser302_Ala304del
ENST00000381168.7:c.*624_*632del	ENSP00000370560.3:n.*624_*632del
ENST00000381175.5:c.985_993del	ENSP00000370567.1:p.Ser329_Ala331del
ENST00000381178.5:c.997_1005del	ENSP00000370571.1:p.Ser333_Ala335del
ENST00000412076.1:c.136-157_136-149del
ENST00000416223.5:c.198_206del
ENST00000461172.1:n.69_77del
ENST00000479437.5:n.453_461del
NM_000360.3:c.904_912del	NP_000351.2:p.Ser302_Ala304del
NM_199292.2:c.997_1005del	NP_954986.2:p.Ser333_Ala335del
NM_199293.2:c.985_993del	NP_954987.2:p.Ser329_Ala331del
XM_011520335.1:c.916_924del	XP_011518637.1:p.Ser306_Ala308del
XM_011520335.2:c.916_924del	XP_011518637.1:p.Ser306_Ala308del
NM_000360.4:c.904_912del MANE Select	NP_000351.2:p.Ser302_Ala304del
NM_199292.3:c.997_1005del	NP_954986.2:p.Ser333_Ala335del
NM_199293.3:c.985_993del	NP_954987.2:p.Ser329_Ala331del