Canonical Allele Identifier: CA906380

Gene: CTH

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70438699del , CM000663.2:g.70438699del	GRCh38
NC_000001.10:g.70904382del , CM000663.1:g.70904382del	GRCh37
NC_000001.9:g.70676970del	NCBI36
NG_008041.1:g.32428del

Transcript Alleles

HGVS	Amino-acid Change
NM_001902.6:c.1064del MANE Select	NP_001893.2:p.Thr355IlefsTer19
ENST00000370938.8:c.1064del MANE Select	ENSP00000359976.3:p.Thr355IlefsTer19
NM_001190463.1:c.968del	NP_001177392.1:p.Thr323IlefsTer19
NM_001190463.2:c.968del	NP_001177392.1:p.Thr323IlefsTer19
NM_001902.5:c.1064del	NP_001893.2:p.Thr355IlefsTer19
NM_153742.4:c.932del	NP_714964.2:p.Thr311IlefsTer19
NM_153742.5:c.932del	NP_714964.2:p.Thr311IlefsTer19
ENST00000346806.2:c.932del	ENSP00000311554.2:p.Thr311IlefsTer19
ENST00000370938.7:c.1064del	ENSP00000359976.3:p.Thr355IlefsTer19
ENST00000411986.6:c.968del	ENSP00000413407.2:p.Thr323IlefsTer19
ENST00000482383.1:n.339del
XM_005270509.2:c.737del	XP_005270566.1:p.Thr246IlefsTer19
XM_005270509.3:c.737del	XP_005270566.1:p.Thr246IlefsTer19
XM_011540787.1:c.494del	XP_011539089.1:p.Thr165IlefsTer19
XM_017000416.2:c.494del	XP_016855905.1:p.Thr165IlefsTer19