Canonical Allele Identifier: CA612371661

Gene: RPGRIP1

Linked Data

• dbSNP Id: rs1268812315
• gnomAD v2: 14-21780703-T-TGAAA
• gnomAD v4: 14-21312544-T-TGAAA
• MyVariant Identifiers: chr14:g.21780703_21780704insGAAA (hg19) ; chr14:g.21312544_21312545insGAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21312547_21312550dup , CM000676.2:g.21312547_21312550dup	GRCh38
NC_000014.8:g.21780706_21780709dup , CM000676.1:g.21780706_21780709dup	GRCh37
NC_000014.7:g.20850546_20850549dup	NCBI36
NG_008933.1:g.29571_29574dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.1151+41_1151+44dup MANE Select	ENSP00000382895.2:n.1151+41_1151+44dup
ENST00000400017.6:c.1151+41_1151+44dup	ENSP00000382895.2:n.1151+41_1151+44dup
ENST00000556336.5:c.1070+41_1070+44dup	ENSP00000450445.1:n.1070+41_1070+44dup
ENST00000557771.5:c.1070+41_1070+44dup	ENSP00000451219.1:n.1070+41_1070+44dup
NM_020366.3:c.1151+41_1151+44dup	NP_065099.3:n.1151+41_1151+44dup
XM_011536983.1:c.1118+41_1118+44dup	XP_011535285.1:n.1118+41_1118+44dup
NM_020366.4:c.1151+41_1151+44dup MANE Select	NP_065099.3:n.1151+41_1151+44dup