Canonical Allele Identifier: CA1948005045

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166481_2166492delinsTGCGAGAACTGC , CM000673.2:g.2166481_2166492delinsTGCGAGAACTGC	GRCh38
NC_000011.9:g.2187711_2187722delinsTGCGAGAACTGC , CM000673.1:g.2187711_2187722delinsTGCGAGAACTGC	GRCh37
NC_000011.8:g.2144287_2144298delinsTGCGAGAACTGC	NCBI36
NG_008128.1:g.10314_10325delinsGCAGTTCTCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1035_1046delinsGCAGTTCTCGCA MANE Select	ENSP00000325951.4:p.Ala345=
ENST00000324155.8:c.*724_*735delinsGCAGTTCTCGCA	ENSP00000325831.3:n.*724_*735delinsGCAGTTCTCGCA
ENST00000333684.9:c.753_764delinsGCAGTTCTCGCA	ENSP00000328814.6:p.Ala251=
ENST00000352909.7:c.1035_1046delinsGCAGTTCTCGCA	ENSP00000325951.3:p.Ala345=
ENST00000381168.7:c.*755_*766delinsGCAGTTCTCGCA	ENSP00000370560.3:n.*755_*766delinsGCAGTTCTCGCA
ENST00000381175.5:c.1116_1127delinsGCAGTTCTCGCA	ENSP00000370567.1:p.Ala372=
ENST00000381178.5:c.1128_1139delinsGCAGTTCTCGCA	ENSP00000370571.1:p.Ala376=
ENST00000412076.1:c.193_204delinsGCAGTTCTCGCA
ENST00000416223.5:c.329_340delinsGCAGTTCTCGCA
ENST00000461172.1:n.200_211delinsGCAGTTCTCGCA
ENST00000479437.5:n.584_595delinsGCAGTTCTCGCA
NM_000360.3:c.1035_1046delinsGCAGTTCTCGCA	NP_000351.2:p.Ala345=
NM_199292.2:c.1128_1139delinsGCAGTTCTCGCA	NP_954986.2:p.Ala376=
NM_199293.2:c.1116_1127delinsGCAGTTCTCGCA	NP_954987.2:p.Ala372=
XM_011520335.1:c.1047_1058delinsGCAGTTCTCGCA	XP_011518637.1:p.Ala349=
XM_011520335.2:c.1047_1058delinsGCAGTTCTCGCA	XP_011518637.1:p.Ala349=
NM_000360.4:c.1035_1046delinsGCAGTTCTCGCA MANE Select	NP_000351.2:p.Ala345=
NM_199292.3:c.1128_1139delinsGCAGTTCTCGCA	NP_954986.2:p.Ala376=
NM_199293.3:c.1116_1127delinsGCAGTTCTCGCA	NP_954987.2:p.Ala372=