Canonical Allele Identifier: CA1948006200

Gene: TH

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2167089_2167094delinsCCTCCT , CM000673.2:g.2167089_2167094delinsCCTCCT	GRCh38
NC_000011.9:g.2188319_2188324delinsCCTCCT , CM000673.1:g.2188319_2188324delinsCCTCCT	GRCh37
NC_000011.8:g.2144895_2144900delinsCCTCCT	NCBI36
NG_008128.1:g.9712_9717delinsAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.696-62_696-57delinsAGGAGG MANE Select	ENSP00000325951.4:n.696-62_696-57delinsAGGAGG
ENST00000324155.8:c.*385-62_*385-57delinsAGGAGG	ENSP00000325831.3:n.*385-62_*385-57delinsAGGAGG
ENST00000333684.9:c.695+341_695+346delinsAGGAGG	ENSP00000328814.6:n.695+341_695+346delinsAGGAGG
ENST00000352909.7:c.696-62_696-57delinsAGGAGG	ENSP00000325951.3:n.696-62_696-57delinsAGGAGG
ENST00000381168.7:c.*416-62_*416-57delinsAGGAGG	ENSP00000370560.3:n.*416-62_*416-57delinsAGGAGG
ENST00000381175.5:c.777-62_777-57delinsAGGAGG	ENSP00000370567.1:n.777-62_777-57delinsAGGAGG
ENST00000381178.5:c.789-62_789-57delinsAGGAGG	ENSP00000370571.1:n.789-62_789-57delinsAGGAGG
ENST00000412076.1:c.135+341_135+346delinsAGGAGG
ENST00000416223.5:c.136-326_136-321delinsAGGAGG
ENST00000469226.1:n.825-62_825-57delinsAGGAGG
ENST00000479437.5:n.183_188delinsAGGAGG
NM_000360.3:c.696-62_696-57delinsAGGAGG	NP_000351.2:n.696-62_696-57delinsAGGAGG
NM_199292.2:c.789-62_789-57delinsAGGAGG	NP_954986.2:n.789-62_789-57delinsAGGAGG
NM_199293.2:c.777-62_777-57delinsAGGAGG	NP_954987.2:n.777-62_777-57delinsAGGAGG
XM_011520335.1:c.708-62_708-57delinsAGGAGG	XP_011518637.1:n.708-62_708-57delinsAGGAGG
XM_011520335.2:c.708-62_708-57delinsAGGAGG	XP_011518637.1:n.708-62_708-57delinsAGGAGG
NM_000360.4:c.696-62_696-57delinsAGGAGG MANE Select	NP_000351.2:n.696-62_696-57delinsAGGAGG
NM_199292.3:c.789-62_789-57delinsAGGAGG	NP_954986.2:n.789-62_789-57delinsAGGAGG
NM_199293.3:c.777-62_777-57delinsAGGAGG	NP_954987.2:n.777-62_777-57delinsAGGAGG