Canonical Allele Identifier: CA227917

Gene: RPGRIP1

Linked Data

• ClinVar Variation Id: 99818
• ClinVar RCV Id: RCV000086249
• dbSNP Id: rs1555302659
• MyVariant Identifiers: chr14:g.21795830dupA (hg19) ; chr14:g.21795830_21795831insA (hg19) ; chr14:g.21327671dupA (hg38) ; chr14:g.21327671_21327672insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21327672dup , CM000676.2:g.21327672dup	GRCh38
NC_000014.8:g.21795831dup , CM000676.1:g.21795831dup	GRCh37
NC_000014.7:g.20865671dup	NCBI36
NG_008933.1:g.44696dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2760dup MANE Select	ENSP00000382895.2:p.Val921SerfsTer13
ENST00000382933.8:c.738dup	ENSP00000372391.4:p.Val247SerfsTer13
ENST00000400017.6:c.2760dup	ENSP00000382895.2:p.Val921SerfsTer13
ENST00000553927.1:n.1692dup
ENST00000555322.5:c.1187dup
ENST00000555489.5:c.953dup	ENSP00000451044.1:n.953dup
ENST00000555587.5:c.1185dup	ENSP00000451262.1:p.Val396SerfsTer13
ENST00000556336.5:c.1731dup	ENSP00000450445.1:p.Val578SerfsTer13
ENST00000557771.5:c.2646dup	ENSP00000451219.1:p.Val883SerfsTer13
NM_020366.3:c.2760dup	NP_065099.3:p.Val921SerfsTer13
XM_005267879.2:c.1686dup	XP_005267936.1:p.Val563SerfsTer13
XM_005267880.2:c.1653dup	XP_005267937.1:p.Val552SerfsTer13
XM_005267881.2:c.1134dup	XP_005267938.1:p.Val379SerfsTer13
XM_011536978.1:c.1686dup	XP_011535280.1:p.Val563SerfsTer13
XM_011536979.1:c.1470dup	XP_011535281.1:p.Val491SerfsTer13
XM_011536980.1:c.1341dup	XP_011535282.1:p.Val448SerfsTer13
XM_011536981.1:c.1191dup	XP_011535283.1:p.Val398SerfsTer13
XM_011536982.1:c.846dup	XP_011535284.1:p.Val283SerfsTer13
XM_011536983.1:c.2727dup	XP_011535285.1:p.Val910SerfsTer13
XM_005267881.3:c.1134dup	XP_005267938.1:p.Val379SerfsTer13
XM_017021473.1:c.1191dup	XP_016876962.1:p.Val398SerfsTer13
XM_024449663.1:c.1686dup	XP_024305431.1:p.Val563SerfsTer13
XM_024449664.1:c.1191dup	XP_024305432.1:p.Val398SerfsTer13
XM_024449665.1:c.846dup	XP_024305433.1:p.Val283SerfsTer13
XM_024449666.1:c.846dup	XP_024305434.1:p.Val283SerfsTer13
NM_001377523.1:c.738dup	NP_001364452.1:p.Val247SerfsTer13
NM_001377948.1:c.1686dup	NP_001364877.1:p.Val563SerfsTer13
NM_001377949.1:c.846dup	NP_001364878.1:p.Val283SerfsTer13
NM_001377950.1:c.738dup	NP_001364879.1:p.Val247SerfsTer13
NM_001377951.1:c.240dup	NP_001364880.1:p.Val81SerfsTer13
NM_020366.4:c.2760dup MANE Select	NP_065099.3:p.Val921SerfsTer13