Canonical Allele Identifier: CA726482064
Gene: PRPF8 HGNC NCBI

Linked Data

dbSNP Id: rs1387473002
gnomAD v3: 17-1650755-G-GC
gnomAD v4: 17-1650755-G-GC
MyVariant Identifiers: chr17:g.1554049_1554050insC (hg19) chr17:g.1650755_1650756insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.1650756dup , CM000679.2:g.1650756dup GRCh38
NC_000017.10:g.1554050dup , CM000679.1:g.1554050dup GRCh37
NC_000017.9:g.1500800dup NCBI36
NG_009118.1:g.39127dup
NG_033061.1:g.4343dup

Transcript Alleles

HGVS Amino-acid change
ENST00000573725.2:c.*46dup ENSP00000460849.2:n.*46dup
ENST00000703537.1:c.2802dup
ENST00000703538.1:c.*6777dup ENSP00000515361.1:n.*6777dup
ENST00000703539.1:n.3368dup
ENST00000703540.1:c.*46dup ENSP00000515362.1:n.*46dup
ENST00000304992.11:c.*46dup MANE Select ENSP00000304350.6:n.*46dup
ENST00000304992.10:c.*46dup ENSP00000304350.6:n.*46dup
ENST00000571958.1:c.253dup
ENST00000572621.5:c.*46dup ENSP00000460348.1:n.*46dup
NM_006445.3:c.*46dup NP_006436.3:n.*46dup
XM_024450537.1:c.*46dup XP_024306305.1:n.*46dup
NM_006445.4:c.*46dup MANE Select NP_006436.3:n.*46dup
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