Canonical Allele Identifier: CA1110640994
Gene: RP1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1797884938
gnomAD v3: 8-10612558-C-CCCAGCCCTGGGCT
gnomAD v4: 8-10612558-C-CCCAGCCCTGGGCT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10612558_10612559insCCAGCCCTGGGCT , CM000670.2:g.10612558_10612559insCCAGCCCTGGGCT GRCh38
NC_000008.10:g.10470068_10470069insCCAGCCCTGGGCT , CM000670.1:g.10470068_10470069insCCAGCCCTGGGCT GRCh37
NC_000008.9:g.10507478_10507479insCCAGCCCTGGGCT NCBI36
NG_028035.1:g.47549_47550insAGCCCAGGGCTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.1539_1540insAGCCCAGGGCTGG MANE Select ENSP00000371923.3:p.Gly514SerfsTer19
ENST00000382483.3:c.1539_1540insAGCCCAGGGCTGG ENSP00000371923.3:p.Gly514SerfsTer19
NM_178857.5:c.1539_1540insAGCCCAGGGCTGG NP_849188.4:p.Gly514SerfsTer19
NM_178857.6:c.1539_1540insAGCCCAGGGCTGG MANE Select NP_849188.4:p.Gly514SerfsTer19
Search 100 bp 5'
Search 100 bp 3'