Canonical Allele Identifier: CA2611964602

Gene: TH

Linked Data

• gnomAD v4: 11-2166959-AAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2166961_2166963del , CM000673.2:g.2166961_2166963del	GRCh38
NC_000011.9:g.2188191_2188193del , CM000673.1:g.2188191_2188193del	GRCh37
NC_000011.8:g.2144767_2144769del	NCBI36
NG_008128.1:g.9844_9846del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000352909.8:c.766_768del MANE Select	ENSP00000325951.4:p.Ala256del
ENST00000324155.8:c.*455_*457del	ENSP00000325831.3:n.*455_*457del
ENST00000333684.9:c.696-413_696-411del	ENSP00000328814.6:n.696-413_696-411del
ENST00000352909.7:c.766_768del	ENSP00000325951.3:p.Ala256del
ENST00000381168.7:c.*486_*488del	ENSP00000370560.3:n.*486_*488del
ENST00000381175.5:c.847_849del	ENSP00000370567.1:p.Ala283del
ENST00000381178.5:c.859_861del	ENSP00000370571.1:p.Ala287del
ENST00000412076.1:c.136-413_136-411del
ENST00000416223.5:c.136-194_136-192del
ENST00000469226.1:n.895_897del
ENST00000479437.5:n.315_317del
NM_000360.3:c.766_768del	NP_000351.2:p.Ala256del
NM_199292.2:c.859_861del	NP_954986.2:p.Ala287del
NM_199293.2:c.847_849del	NP_954987.2:p.Ala283del
XM_011520335.1:c.778_780del	XP_011518637.1:p.Ala260del
XM_011520335.2:c.778_780del	XP_011518637.1:p.Ala260del
NM_000360.4:c.766_768del MANE Select	NP_000351.2:p.Ala256del
NM_199292.3:c.859_861del	NP_954986.2:p.Ala287del
NM_199293.3:c.847_849del	NP_954987.2:p.Ala283del