Canonical Allele Identifier: CA2611962046

Gene: TH

Linked Data

• gnomAD v4: 11-2166558-AGGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166563_2166566del , CM000673.2:g.2166563_2166566del	GRCh38
NC_000011.9:g.2187793_2187796del , CM000673.1:g.2187793_2187796del	GRCh37
NC_000011.8:g.2144369_2144372del	NCBI36
NG_008128.1:g.10244_10247del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.978-13_978-10del MANE Select	ENSP00000325951.4:n.978-13_978-10del
ENST00000324155.8:c.*667-13_*667-10del	ENSP00000325831.3:n.*667-13_*667-10del
ENST00000333684.9:c.696-13_696-10del	ENSP00000328814.6:n.696-13_696-10del
ENST00000352909.7:c.978-13_978-10del	ENSP00000325951.3:n.978-13_978-10del
ENST00000381168.7:c.*698-13_*698-10del	ENSP00000370560.3:n.*698-13_*698-10del
ENST00000381175.5:c.1059-13_1059-10del	ENSP00000370567.1:n.1059-13_1059-10del
ENST00000381178.5:c.1071-13_1071-10del	ENSP00000370571.1:n.1071-13_1071-10del
ENST00000412076.1:c.136-13_136-10del
ENST00000416223.5:c.272-13_272-10del
ENST00000461172.1:n.143-13_143-10del
ENST00000479437.5:n.527-13_527-10del
NM_000360.3:c.978-13_978-10del	NP_000351.2:n.978-13_978-10del
NM_199292.2:c.1071-13_1071-10del	NP_954986.2:n.1071-13_1071-10del
NM_199293.2:c.1059-13_1059-10del	NP_954987.2:n.1059-13_1059-10del
XM_011520335.1:c.990-13_990-10del	XP_011518637.1:n.990-13_990-10del
XM_011520335.2:c.990-13_990-10del	XP_011518637.1:n.990-13_990-10del
NM_000360.4:c.978-13_978-10del MANE Select	NP_000351.2:n.978-13_978-10del
NM_199292.3:c.1071-13_1071-10del	NP_954986.2:n.1071-13_1071-10del
NM_199293.3:c.1059-13_1059-10del	NP_954987.2:n.1059-13_1059-10del