Canonical Allele Identifier: CA1948005098

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166512_2166520delinsGCATGGGCA , CM000673.2:g.2166512_2166520delinsGCATGGGCA	GRCh38
NC_000011.9:g.2187742_2187750delinsGCATGGGCA , CM000673.1:g.2187742_2187750delinsGCATGGGCA	GRCh37
NC_000011.8:g.2144318_2144326delinsGCATGGGCA	NCBI36
NG_008128.1:g.10286_10294delinsTGCCCATGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.1007_1015delinsTGCCCATGC MANE Select	ENSP00000325951.4:p.Val336=
ENST00000324155.8:c.*696_*704delinsTGCCCATGC	ENSP00000325831.3:n.*696_*704delinsTGCCCATGC
ENST00000333684.9:c.725_733delinsTGCCCATGC	ENSP00000328814.6:p.Val242=
ENST00000352909.7:c.1007_1015delinsTGCCCATGC	ENSP00000325951.3:p.Val336=
ENST00000381168.7:c.*727_*735delinsTGCCCATGC	ENSP00000370560.3:n.*727_*735delinsTGCCCATGC
ENST00000381175.5:c.1088_1096delinsTGCCCATGC	ENSP00000370567.1:p.Val363=
ENST00000381178.5:c.1100_1108delinsTGCCCATGC	ENSP00000370571.1:p.Val367=
ENST00000412076.1:c.165_173delinsTGCCCATGC
ENST00000416223.5:c.301_309delinsTGCCCATGC
ENST00000461172.1:n.172_180delinsTGCCCATGC
ENST00000479437.5:n.556_564delinsTGCCCATGC
NM_000360.3:c.1007_1015delinsTGCCCATGC	NP_000351.2:p.Val336=
NM_199292.2:c.1100_1108delinsTGCCCATGC	NP_954986.2:p.Val367=
NM_199293.2:c.1088_1096delinsTGCCCATGC	NP_954987.2:p.Val363=
XM_011520335.1:c.1019_1027delinsTGCCCATGC	XP_011518637.1:p.Val340=
XM_011520335.2:c.1019_1027delinsTGCCCATGC	XP_011518637.1:p.Val340=
NM_000360.4:c.1007_1015delinsTGCCCATGC MANE Select	NP_000351.2:p.Val336=
NM_199292.3:c.1100_1108delinsTGCCCATGC	NP_954986.2:p.Val367=
NM_199293.3:c.1088_1096delinsTGCCCATGC	NP_954987.2:p.Val363=