Canonical Allele Identifier: CA1110639029
Gene: RP1L1 HGNC NCBI

Linked Data

gnomAD v3: 8-10608226-ACTCTGGCTGGGTCTGCCCTTCTGCCTCCTGGGCCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCGTCCTCCCCTTCAGTCTCCAGGGCCTCTACACTTTCTGT-A
gnomAD v4: 8-10608226-ACTCTGGCTGGGTCTGCCCTTCTGCCTCCTGGGCCGCCTCTTCTGCCTCTTGGGCCTCTGCACCTTCTGACTCTGGCTCGTCCTCCCCTTCAGTCTCCAGGGCCTCTACACTTTCTGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10608238_10608354del , CM000670.2:g.10608238_10608354del GRCh38
NC_000008.10:g.10465748_10465864del , CM000670.1:g.10465748_10465864del GRCh37
NC_000008.9:g.10503158_10503274del NCBI36
NG_028035.1:g.51765_51881del

Transcript Alleles

HGVS Amino-acid change
ENST00000382483.4:c.5755_5871del MANE Select ENSP00000371923.3:p.Thr1919_Glu1957del
ENST00000382483.3:c.5755_5871del ENSP00000371923.3:p.Thr1919_Glu1957del
NM_178857.5:c.5755_5871del NP_849188.4:p.Thr1919_Glu1957del
NM_178857.6:c.5755_5871del MANE Select NP_849188.4:p.Thr1919_Glu1957del
Search 100 bp 5'
Search 100 bp 3'