Canonical Allele Identifier: CA2785225694
Gene: CCDC180 HGNC NCBI
SUGT1P4-STRA6LP-CCDC180 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.97343359del , CM000671.2:g.97343359del GRCh38
NC_000009.11:g.100105641del , CM000671.1:g.100105641del GRCh37
NC_000009.10:g.99145462del NCBI36
NG_052792.1:g.41056del

Transcript Alleles

HGVS Amino-acid Change
ENST00000529487.3:c.2294del (CCDC180) MANE Select ENSP00000434727.2:p.Gly765ValfsTer2
ENST00000460482.6:n.2628del (CCDC180)
ENST00000494917.6:n.2497del (CCDC180)
ENST00000528678.1:n.390del (CCDC180)
ENST00000529487.1:c.2426del (CCDC180) ENSP00000434727.1:p.Gly809ValfsTer2
ENST00000530011.1:n.236-5752del (CCDC180)
NM_020893.2:c.2426del (CCDC180) NP_065944.2:p.Gly809ValfsTer2
NR_036527.1:n.3849del (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3849del (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3409del (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2417del (CCDC180) NP_001334939.1:p.Gly806ValfsTer2
NM_020893.3:c.2426del (CCDC180) NP_065944.2:p.Gly809ValfsTer2
NM_001348010.2:c.2417del (CCDC180) NP_001334939.1:p.Gly806ValfsTer2
NM_020893.4:c.2426del (CCDC180) NP_065944.2:p.Gly809ValfsTer2
NM_001348010.4:c.2285del (CCDC180) NP_001334939.2:p.Gly762ValfsTer2
NM_020893.6:c.2294del (CCDC180) MANE Select NP_065944.3:p.Gly765ValfsTer2