Canonical Allele Identifier: CA2664351370

Gene: RPUSD3 TTLL3

Linked Data

• gnomAD v4: 3-9839159-TGACTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839162_9839166del , CM000665.2:g.9839162_9839166del	GRCh38
NC_000003.11:g.9880846_9880850del , CM000665.1:g.9880846_9880850del	GRCh37
NC_000003.10:g.9855846_9855850del	NCBI36
NG_054931.1:g.9855_9859del

Transcript Alleles

HGVS	Amino-acid change
ENST00000383820.10:c.708_712del (RPUSD3) MANE Select	ENSP00000373331.6:p.Ser237ThrfsTer?
ENST00000433535.7:c.663_667del (RPUSD3)	ENSP00000398921.3:p.Ser222ThrfsTer?
ENST00000383820.9:c.732_736del (RPUSD3)	ENSP00000373331.5:p.Ser245ThrfsTer?
ENST00000423108.5:c.218_222del (RPUSD3)
ENST00000424438.5:c.629-957_629-953del (RPUSD3)	ENSP00000408693.1:n.629-957_629-953del
ENST00000427174.5:c.732_736del (RPUSD3)
ENST00000433535.6:c.687_691del (RPUSD3)	ENSP00000398921.2:p.Ser230ThrfsTer?
ENST00000455274.5:c.918+9767_918+9771del (TTLL3)	ENSP00000409632.1:n.918+9767_918+9771del
ENST00000464783.1:n.691_695del (RPUSD3)
ENST00000466141.1:n.550_554del (RPUSD3)
NM_001142547.1:c.687_691del (RPUSD3)	NP_001136019.1:p.Ser230ThrfsTer?
NM_173659.3:c.732_736del (RPUSD3)	NP_775930.2:p.Ser245ThrfsTer?
XM_011533627.1:c.725-957_725-953del (RPUSD3)	XP_011531929.1:n.725-957_725-953del
NM_001142547.2:c.687_691del (RPUSD3)	NP_001136019.1:p.Ser230ThrfsTer?
NM_001351736.1:c.629-957_629-953del (RPUSD3)	NP_001338665.1:n.629-957_629-953del
NM_001351737.1:c.725-957_725-953del (RPUSD3)	NP_001338666.1:n.725-957_725-953del
NM_001351738.1:c.760_764del (RPUSD3)	NP_001338667.1:p.Gln254AsnfsTer?
NM_173659.4:c.732_736del (RPUSD3)	NP_775930.2:p.Ser245ThrfsTer?
XM_024453471.1:c.732_736del (RPUSD3)	XP_024309239.1:p.Ser245ThrfsTer?
XM_024453472.1:c.724+1020_724+1024del (RPUSD3)	XP_024309240.1:n.724+1020_724+1024del
NM_001351736.2:c.629-957_629-953del (RPUSD3)	NP_001338665.1:n.629-957_629-953del
NM_001351736.3:c.629-957_629-953del (RPUSD3)	NP_001338665.1:n.629-957_629-953del
NM_001142547.3:c.663_667del (RPUSD3)	NP_001136019.2:p.Ser222ThrfsTer?
NM_001351737.2:c.701-957_701-953del (RPUSD3)	NP_001338666.2:n.701-957_701-953del
NM_001351738.2:c.736_740del (RPUSD3)	NP_001338667.2:p.Gln246AsnfsTer?
NM_173659.5:c.708_712del (RPUSD3) MANE Select	NP_775930.3:p.Ser237ThrfsTer?