Canonical Allele Identifier: CA1174413813

Gene: CTH

Linked Data

• dbSNP Id: rs1684662265

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70439035_70439037del , CM000663.2:g.70439035_70439037del	GRCh38
NC_000001.10:g.70904718_70904720del , CM000663.1:g.70904718_70904720del	GRCh37
NC_000001.9:g.70677306_70677308del	NCBI36
NG_008041.1:g.32764_32766del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370938.8:c.1192-66_1192-64del MANE Select	ENSP00000359976.3:n.1192-66_1192-64del
ENST00000346806.2:c.1060-66_1060-64del	ENSP00000311554.2:n.1060-66_1060-64del
ENST00000370938.7:c.1192-66_1192-64del	ENSP00000359976.3:n.1192-66_1192-64del
ENST00000411986.6:c.1096-66_1096-64del	ENSP00000413407.2:n.1096-66_1096-64del
ENST00000482383.1:n.467-66_467-64del
NM_001190463.1:c.1096-66_1096-64del	NP_001177392.1:n.1096-66_1096-64del
NM_001902.5:c.1192-66_1192-64del	NP_001893.2:n.1192-66_1192-64del
NM_153742.4:c.1060-66_1060-64del	NP_714964.2:n.1060-66_1060-64del
XM_005270509.2:c.865-66_865-64del	XP_005270566.1:n.865-66_865-64del
XM_011540787.1:c.622-66_622-64del	XP_011539089.1:n.622-66_622-64del
XM_005270509.3:c.865-66_865-64del	XP_005270566.1:n.865-66_865-64del
XM_017000416.2:c.622-66_622-64del	XP_016855905.1:n.622-66_622-64del
NM_001902.6:c.1192-66_1192-64del MANE Select	NP_001893.2:n.1192-66_1192-64del
NM_001190463.2:c.1096-66_1096-64del	NP_001177392.1:n.1096-66_1096-64del
NM_153742.5:c.1060-66_1060-64del	NP_714964.2:n.1060-66_1060-64del