Canonical Allele Identifier: CA2646204292

Gene: CTH

Linked Data

• gnomAD v4: 1-70439152-TGCTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439153_70439157del , CM000663.2:g.70439153_70439157del	GRCh38
NC_000001.10:g.70904836_70904840del , CM000663.1:g.70904836_70904840del	GRCh37
NC_000001.9:g.70677424_70677428del	NCBI36
NG_008041.1:g.32882_32886del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.*26_*30del MANE Select	ENSP00000359976.3:n.*26_*30del
ENST00000346806.2:c.*26_*30del	ENSP00000311554.2:n.*26_*30del
ENST00000370938.7:c.*26_*30del	ENSP00000359976.3:n.*26_*30del
ENST00000411986.6:c.*26_*30del	ENSP00000413407.2:n.*26_*30del
ENST00000482383.1:n.519_523del
NM_001190463.1:c.*26_*30del	NP_001177392.1:n.*26_*30del
NM_001902.5:c.*26_*30del	NP_001893.2:n.*26_*30del
NM_153742.4:c.*26_*30del	NP_714964.2:n.*26_*30del
XM_005270509.2:c.*26_*30del	XP_005270566.1:n.*26_*30del
XM_011540787.1:c.*26_*30del	XP_011539089.1:n.*26_*30del
XM_005270509.3:c.*26_*30del	XP_005270566.1:n.*26_*30del
XM_017000416.2:c.*26_*30del	XP_016855905.1:n.*26_*30del
NM_001902.6:c.*26_*30del MANE Select	NP_001893.2:n.*26_*30del
NM_001190463.2:c.*26_*30del	NP_001177392.1:n.*26_*30del
NM_153742.5:c.*26_*30del	NP_714964.2:n.*26_*30del