Canonical Allele Identifier: CA2611972110

Gene: TH

Linked Data

• gnomAD v4: 11-2165333-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2165334_2165335del , CM000673.2:g.2165334_2165335del	GRCh38
NC_000011.9:g.2186564_2186565del , CM000673.1:g.2186564_2186565del	GRCh37
NC_000011.8:g.2143140_2143141del	NCBI36
NG_007114.1:g.860_861del
NG_008128.1:g.11471_11472del
NG_050578.1:g.875_876del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1231_1232del MANE Select	ENSP00000325951.4:p.Ala411LeufsTer4
ENST00000324155.8:c.*920_*921del	ENSP00000325831.3:n.*920_*921del
ENST00000333684.9:c.949_950del	ENSP00000328814.6:p.Ala317LeufsTer4
ENST00000352909.7:c.1231_1232del	ENSP00000325951.3:p.Ala411LeufsTer4
ENST00000381175.5:c.1312_1313del	ENSP00000370567.1:p.Ala438LeufsTer4
ENST00000381178.5:c.1324_1325del	ENSP00000370571.1:p.Ala442LeufsTer4
NM_000360.3:c.1231_1232del	NP_000351.2:p.Ala411LeufsTer4
NM_199292.2:c.1324_1325del	NP_954986.2:p.Ala442LeufsTer4
NM_199293.2:c.1312_1313del	NP_954987.2:p.Ala438LeufsTer4
XM_011520335.1:c.1243_1244del	XP_011518637.1:p.Ala415LeufsTer4
XM_011520335.2:c.1243_1244del	XP_011518637.1:p.Ala415LeufsTer4
NM_000360.4:c.1231_1232del MANE Select	NP_000351.2:p.Ala411LeufsTer4
NM_199292.3:c.1324_1325del	NP_954986.2:p.Ala442LeufsTer4
NM_199293.3:c.1312_1313del	NP_954987.2:p.Ala438LeufsTer4