Canonical Allele Identifier: CA2800825486

Gene: RPGRIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21321786_21321874del , CM000676.2:g.21321786_21321874del	GRCh38
NC_000014.8:g.21789945_21790033del , CM000676.1:g.21789945_21790033del	GRCh37
NC_000014.7:g.20859785_20859873del	NCBI36
NG_008933.1:g.38810_38898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1612-68_1632del
ENST00000382933.8:c.538-68_558del
ENST00000400017.6:c.1612-68_1632del
ENST00000553500.5:n.70-68_90del
ENST00000554303.1:c.31-68_51del
ENST00000555322.5:c.149-71_166del
ENST00000555587.5:c.40-71_57del
ENST00000556336.5:c.1531-68_1551del
ENST00000557771.5:c.1531-68_1551del
NM_020366.3:c.1612-68_1632del
XM_005267879.2:c.538-68_558del
XM_005267880.2:c.538-68_558del
XM_005267881.2:c.-15-68_6del
XM_011536978.1:c.538-68_558del
XM_011536979.1:c.538-68_558del
XM_011536980.1:c.538-68_558del
XM_011536981.1:c.538-68_558del
XM_011536982.1:c.538-68_558del
XM_011536983.1:c.1579-68_1599del
XM_005267881.3:c.-15-68_6del
XM_017021473.1:c.538-68_558del
XM_024449663.1:c.538-68_558del
XM_024449664.1:c.538-68_558del
XM_024449665.1:c.538-68_558del
XM_024449666.1:c.538-68_558del
NM_001377523.1:c.538-68_558del
NM_001377948.1:c.538-68_558del
NM_001377949.1:c.538-68_558del
NM_001377950.1:c.538-68_558del
NM_001377951.1:c.40-68_60del
NM_020366.4:c.1612-68_1632del