Canonical Allele Identifier: CA2690872731

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343482-TGTTCATCAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343484_97343493del , CM000671.2:g.97343484_97343493del	GRCh38
NC_000009.11:g.100105766_100105775del , CM000671.1:g.100105766_100105775del	GRCh37
NC_000009.10:g.99145587_99145596del	NCBI36
NG_052792.1:g.41181_41190del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529487.3:c.2419_2428del (CCDC180) MANE Select	ENSP00000434727.2:p.Phe807ThrfsTer8
ENST00000460482.6:n.2753_2762del (CCDC180)
ENST00000494917.6:n.2622_2631del (CCDC180)
ENST00000528678.1:n.515_524del (CCDC180)
ENST00000529487.1:c.2551_2560del (CCDC180)	ENSP00000434727.1:p.Phe851ThrfsTer8
ENST00000530011.1:n.236-5627_236-5618del (CCDC180)
NM_020893.2:c.2551_2560del (CCDC180)	NP_065944.2:p.Phe851ThrfsTer8
NR_036527.1:n.3974_3983del (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3974_3983del (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3534_3543del (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2542_2551del (CCDC180)	NP_001334939.1:p.Phe848ThrfsTer8
NM_020893.3:c.2551_2560del (CCDC180)	NP_065944.2:p.Phe851ThrfsTer8
NM_001348010.2:c.2542_2551del (CCDC180)	NP_001334939.1:p.Phe848ThrfsTer8
NM_020893.4:c.2551_2560del (CCDC180)	NP_065944.2:p.Phe851ThrfsTer8
NM_001348010.4:c.2410_2419del (CCDC180)	NP_001334939.2:p.Phe804ThrfsTer8
NM_020893.6:c.2419_2428del (CCDC180) MANE Select	NP_065944.3:p.Phe807ThrfsTer8