Canonical Allele Identifier: CA2690872682

Gene: CCDC180 SUGT1P4-STRA6LP-CCDC180

Linked Data

• gnomAD v4: 9-97343384-CATGGAGTCCTTCACAATCTCCAGTGGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97343386_97343413del , CM000671.2:g.97343386_97343413del	GRCh38
NC_000009.11:g.100105668_100105695del , CM000671.1:g.100105668_100105695del	GRCh37
NC_000009.10:g.99145489_99145516del	NCBI36
NG_052792.1:g.41083_41110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000529487.3:c.2321_2348del (CCDC180) MANE Select	ENSP00000434727.2:p.Met774ThrfsTer?
ENST00000460482.6:n.2655_2682del (CCDC180)
ENST00000494917.6:n.2524_2551del (CCDC180)
ENST00000528678.1:n.417_444del (CCDC180)
ENST00000529487.1:c.2453_2480del (CCDC180)	ENSP00000434727.1:p.Met818ThrfsTer?
ENST00000530011.1:n.236-5725_236-5698del (CCDC180)
NM_020893.2:c.2453_2480del (CCDC180)	NP_065944.2:p.Met818ThrfsTer?
NR_036527.1:n.3876_3903del (SUGT1P4-STRA6LP-CCDC180)
NR_036528.1:n.3876_3903del (SUGT1P4-STRA6LP-CCDC180)
NR_036529.1:n.3436_3463del (SUGT1P4-STRA6LP-CCDC180)
NM_001348010.1:c.2444_2471del (CCDC180)	NP_001334939.1:p.Met815ThrfsTer?
NM_020893.3:c.2453_2480del (CCDC180)	NP_065944.2:p.Met818ThrfsTer?
NM_001348010.2:c.2444_2471del (CCDC180)	NP_001334939.1:p.Met815ThrfsTer?
NM_020893.4:c.2453_2480del (CCDC180)	NP_065944.2:p.Met818ThrfsTer?
NM_001348010.4:c.2312_2339del (CCDC180)	NP_001334939.2:p.Met771ThrfsTer?
NM_020893.6:c.2321_2348del (CCDC180) MANE Select	NP_065944.3:p.Met774ThrfsTer?