Canonical Allele Identifier: CA1763389811
Gene: RP1L1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.10622769_10622772delinsGGGA , CM000670.2:g.10622769_10622772delinsGGGA GRCh38
NC_000008.10:g.10480279_10480282delinsGGGA , CM000670.1:g.10480279_10480282delinsGGGA GRCh37
NC_000008.9:g.10517689_10517692delinsGGGA NCBI36
NG_028035.1:g.37336_37339delinsTCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000382483.4:c.430_433delinsTCCC MANE Select ENSP00000371923.3:p.Ser144=
ENST00000329335.3:n.680_683delinsTCCC
ENST00000382483.3:c.430_433delinsTCCC ENSP00000371923.3:p.Ser144=
NM_178857.5:c.430_433delinsTCCC NP_849188.4:p.Ser144=
NM_178857.6:c.430_433delinsTCCC MANE Select NP_849188.4:p.Ser144=
Search 100 bp 5'
Search 100 bp 3'