Canonical Allele Identifier: CA70012544

Gene: RPUSD3 TTLL3

Linked Data

• dbSNP Id: rs1025527167
• gnomAD v2: 3-9880927-CT-C
• gnomAD v3: 3-9839243-CT-C
• gnomAD v4: 3-9839243-CT-C
• MyVariant Identifiers: chr3:g.9880928del (hg19) ; chr3:g.9839244del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.9839247del , CM000665.2:g.9839247del	GRCh38
NC_000003.11:g.9880931del , CM000665.1:g.9880931del	GRCh37
NC_000003.10:g.9855931del	NCBI36
NG_054931.1:g.9775del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000383820.10:c.701-73del (RPUSD3) MANE Select	ENSP00000373331.6:n.701-73del
ENST00000433535.7:c.656-73del (RPUSD3)	ENSP00000398921.3:n.656-73del
ENST00000383820.9:c.725-73del (RPUSD3)	ENSP00000373331.5:n.725-73del
ENST00000423108.5:c.211-73del (RPUSD3)
ENST00000424438.5:c.628+940del (RPUSD3)	ENSP00000408693.1:n.628+940del
ENST00000427174.5:c.725-73del (RPUSD3)
ENST00000433535.6:c.680-73del (RPUSD3)	ENSP00000398921.2:n.680-73del
ENST00000455274.5:c.918+9852del (TTLL3)	ENSP00000409632.1:n.918+9852del
ENST00000464783.1:n.684-73del (RPUSD3)
ENST00000466141.1:n.470del (RPUSD3)
NM_001142547.1:c.680-73del (RPUSD3)	NP_001136019.1:n.680-73del
NM_173659.3:c.725-73del (RPUSD3)	NP_775930.2:n.725-73del
XM_011533627.1:c.724+940del (RPUSD3)	XP_011531929.1:n.724+940del
NM_001142547.2:c.680-73del (RPUSD3)	NP_001136019.1:n.680-73del
NM_001351736.1:c.628+940del (RPUSD3)	NP_001338665.1:n.628+940del
NM_001351737.1:c.724+940del (RPUSD3)	NP_001338666.1:n.724+940del
NM_001351738.1:c.753-73del (RPUSD3)	NP_001338667.1:n.753-73del
NM_173659.4:c.725-73del (RPUSD3)	NP_775930.2:n.725-73del
XM_024453471.1:c.725-73del (RPUSD3)	XP_024309239.1:n.725-73del
XM_024453472.1:c.724+940del (RPUSD3)	XP_024309240.1:n.724+940del
NM_001351736.2:c.628+940del (RPUSD3)	NP_001338665.1:n.628+940del
NM_001351736.3:c.628+940del (RPUSD3)	NP_001338665.1:n.628+940del
NM_001142547.3:c.656-73del (RPUSD3)	NP_001136019.2:n.656-73del
NM_001351737.2:c.700+940del (RPUSD3)	NP_001338666.2:n.700+940del
NM_001351738.2:c.729-73del (RPUSD3)	NP_001338667.2:n.729-73del
NM_173659.5:c.701-73del (RPUSD3) MANE Select	NP_775930.3:n.701-73del