Canonical Allele Identifier: CA2510423108

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166606_2166612del , CM000673.2:g.2166606_2166612del	GRCh38
NC_000011.9:g.2187836_2187842del , CM000673.1:g.2187836_2187842del	GRCh37
NC_000011.8:g.2144412_2144418del	NCBI36
NG_008128.1:g.10194_10200del

Transcript Alleles

HGVS	Amino-acid change
ENST00000352909.8:c.977+21_977+27del MANE Select	ENSP00000325951.4:n.977+21_977+27del
ENST00000324155.8:c.*666+21_*666+27del	ENSP00000325831.3:n.*666+21_*666+27del
ENST00000333684.9:c.696-63_696-57del	ENSP00000328814.6:n.696-63_696-57del
ENST00000352909.7:c.977+21_977+27del	ENSP00000325951.3:n.977+21_977+27del
ENST00000381168.7:c.*697+21_*697+27del	ENSP00000370560.3:n.*697+21_*697+27del
ENST00000381175.5:c.1058+21_1058+27del	ENSP00000370567.1:n.1058+21_1058+27del
ENST00000381178.5:c.1070+21_1070+27del	ENSP00000370571.1:n.1070+21_1070+27del
ENST00000412076.1:c.136-63_136-57del
ENST00000416223.5:c.271+21_271+27del
ENST00000461172.1:n.142+21_142+27del
ENST00000479437.5:n.526+21_526+27del
NM_000360.3:c.977+21_977+27del	NP_000351.2:n.977+21_977+27del
NM_199292.2:c.1070+21_1070+27del	NP_954986.2:n.1070+21_1070+27del
NM_199293.2:c.1058+21_1058+27del	NP_954987.2:n.1058+21_1058+27del
XM_011520335.1:c.989+21_989+27del	XP_011518637.1:n.989+21_989+27del
XM_011520335.2:c.989+21_989+27del	XP_011518637.1:n.989+21_989+27del
NM_000360.4:c.977+21_977+27del MANE Select	NP_000351.2:n.977+21_977+27del
NM_199292.3:c.1070+21_1070+27del	NP_954986.2:n.1070+21_1070+27del
NM_199293.3:c.1058+21_1058+27del	NP_954987.2:n.1058+21_1058+27del