Canonical Allele Identifier: CA308485797
Gene: RAB4B-EGLN2 HGNC NCBI

Linked Data

dbSNP Id: rs10680577
gnomAD v2: 19-41304595-A-ATTAC
gnomAD v3: 19-40798690-A-ATTAC
gnomAD v4: 19-40798690-A-ATTAC
MyVariant Identifiers: chr19:g.41304596_41304597insTACT (hg19) chr19:g.41304595_41304596insTTAC (hg19) chr19:g.40798691_40798692insTACT (hg38) chr19:g.40798690_40798691insTTAC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.40798692_40798695dup , CM000681.2:g.40798692_40798695dup GRCh38
NC_000019.9:g.41304597_41304600dup , CM000681.1:g.41304597_41304600dup GRCh37
NC_000019.8:g.45996437_45996440dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000594136.2:c.*16-1647_*16-1644dup ENSP00000469872.1:n.*16-1647_*16-1644dup
ENST00000596216.2:n.875-1647_875-1644dup
ENST00000594136.1:c.*16-1647_*16-1644dup ENSP00000469872.1:n.*16-1647_*16-1644dup
ENST00000596216.1:n.567-1647_567-1644dup
ENST00000601949.5:n.378-1647_378-1644dup
NR_037791.1:n.815-1647_815-1644dup
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