Canonical Allele Identifier: CA2573054237

Gene: RPGRIP1L

Linked Data

• ClinVar Variation Id: 1304261
• ClinVar RCV Id: RCV001752028 ; RCV002488533 ; RCV002539919
• dbSNP Id: rs2151082906

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.53645840_53645841delinsAA , CM000678.2:g.53645840_53645841delinsAA	GRCh38
NC_000016.9:g.53679752_53679753delinsAA , CM000678.1:g.53679752_53679753delinsAA	GRCh37
NC_000016.8:g.52237253_52237254delinsAA	NCBI36
NG_008991.2:g.63019_63020delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262135.9:c.2467_2468delinsTT	ENSP00000262135.4:p.Ala823Leu
ENST00000565343.2:n.2891_2892delinsTT
ENST00000621565.5:c.2467_2468delinsTT	ENSP00000480698.1:p.Ala823Leu
ENST00000647211.2:c.2467_2468delinsTT MANE Select	ENSP00000493946.1:p.Ala823Leu
ENST00000680193.1:c.2467_2468delinsTT	ENSP00000506379.1:p.Ala823Leu
ENST00000262135.8:c.2467_2468delinsTT	ENSP00000262135.4:p.Ala823Leu
ENST00000379925.7:c.2467_2468delinsTT	ENSP00000369257.3:p.Ala823Leu
ENST00000563746.5:c.2467_2468delinsTT	ENSP00000457889.1:p.Ala823Leu
ENST00000564374.5:c.2467_2468delinsTT	ENSP00000456534.1:p.Ala823Leu
ENST00000621565.4:c.2467_2468delinsTT	ENSP00000480698.1:p.Ala823Leu
NM_001127897.1:c.2467_2468delinsTT	NP_001121369.1:p.Ala823Leu
NM_001127897.2:c.2467_2468delinsTT	NP_001121369.1:p.Ala823Leu
NM_001308334.1:c.2467_2468delinsTT	NP_001295263.1:p.Ala823Leu
NM_015272.2:c.2467_2468delinsTT	NP_056087.2:p.Ala823Leu
NM_015272.3:c.2467_2468delinsTT	NP_056087.2:p.Ala823Leu
XM_005255867.1:c.2467_2468delinsTT	XP_005255924.1:p.Ala823Leu
XM_005255868.1:c.2479_2480delinsTT	XP_005255925.1:p.Ala827Leu
XM_005255871.2:c.712_713delinsTT	XP_005255928.1:p.Ala238Leu
XM_011522968.1:c.2467_2468delinsTT	XP_011521270.1:p.Ala823Leu
XM_011522969.1:c.2479_2480delinsTT	XP_011521271.1:p.Ala827Leu
XM_011522970.1:c.2479_2480delinsTT	XP_011521272.1:p.Ala827Leu
XM_011522971.1:c.2479_2480delinsTT	XP_011521273.1:p.Ala827Leu
XM_011522972.1:c.2479_2480delinsTT	XP_011521274.1:p.Ala827Leu
XM_011522973.1:c.2479_2480delinsTT	XP_011521275.1:p.Ala827Leu
XM_011522974.1:c.712_713delinsTT	XP_011521276.1:p.Ala238Leu
XR_933260.1:n.2511_2512delinsTT
NM_001127897.3:c.2467_2468delinsTT	NP_001121369.1:p.Ala823Leu
NM_001308334.2:c.2467_2468delinsTT	NP_001295263.1:p.Ala823Leu
NM_001330538.1:c.2467_2468delinsTT	NP_001317467.1:p.Ala823Leu
NM_015272.4:c.2467_2468delinsTT	NP_056087.2:p.Ala823Leu
XM_005255868.2:c.2479_2480delinsTT	XP_005255925.1:p.Ala827Leu
XM_011522970.2:c.2479_2480delinsTT	XP_011521272.1:p.Ala827Leu
XM_011522971.3:c.2479_2480delinsTT	XP_011521273.1:p.Ala827Leu
XM_011522973.3:c.2479_2480delinsTT	XP_011521275.1:p.Ala827Leu
XM_017023094.2:c.2479_2480delinsTT	XP_016878583.1:p.Ala827Leu
XM_017023095.2:c.2479_2480delinsTT	XP_016878584.1:p.Ala827Leu
XM_017023096.2:c.2479_2480delinsTT	XP_016878585.1:p.Ala827Leu
XM_017023098.1:c.712_713delinsTT	XP_016878587.1:p.Ala238Leu
XM_017023099.1:c.712_713delinsTT	XP_016878588.1:p.Ala238Leu
XR_933260.3:n.2522_2523delinsTT
NM_015272.5:c.2467_2468delinsTT MANE Select	NP_056087.2:p.Ala823Leu
NM_001127897.4:c.2467_2468delinsTT	NP_001121369.1:p.Ala823Leu
NM_001330538.2:c.2467_2468delinsTT	NP_001317467.1:p.Ala823Leu
NM_001308334.3:c.2467_2468delinsTT	NP_001295263.1:p.Ala823Leu