Canonical Allele Identifier: CA2611963654

Gene: TH

Linked Data

• gnomAD v4: 11-2166758-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166761del , CM000673.2:g.2166761del	GRCh38
NC_000011.9:g.2187991del , CM000673.1:g.2187991del	GRCh37
NC_000011.8:g.2144567del	NCBI36
NG_008128.1:g.10047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.851del MANE Select	ENSP00000325951.4:p.Gly284AlafsTer?
ENST00000324155.8:c.*540del	ENSP00000325831.3:n.*540del
ENST00000333684.9:c.696-210del	ENSP00000328814.6:n.696-210del
ENST00000352909.7:c.851del	ENSP00000325951.3:p.Gly284AlafsTer?
ENST00000381168.7:c.*571del	ENSP00000370560.3:n.*571del
ENST00000381175.5:c.932del	ENSP00000370567.1:p.Gly311AlafsTer?
ENST00000381178.5:c.944del	ENSP00000370571.1:p.Gly315AlafsTer?
ENST00000412076.1:c.136-210del
ENST00000416223.5:c.145del
ENST00000461172.1:n.16del
ENST00000479437.5:n.400del
NM_000360.3:c.851del	NP_000351.2:p.Gly284AlafsTer?
NM_199292.2:c.944del	NP_954986.2:p.Gly315AlafsTer?
NM_199293.2:c.932del	NP_954987.2:p.Gly311AlafsTer?
XM_011520335.1:c.863del	XP_011518637.1:p.Gly288AlafsTer?
XM_011520335.2:c.863del	XP_011518637.1:p.Gly288AlafsTer?
NM_000360.4:c.851del MANE Select	NP_000351.2:p.Gly284AlafsTer?
NM_199292.3:c.944del	NP_954986.2:p.Gly315AlafsTer?
NM_199293.3:c.932del	NP_954987.2:p.Gly311AlafsTer?