Canonical Allele Identifier: CA339935

Linked Data

ClinVar Variation Id: 2047
dbSNP Id: rs386834261

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.67729338_67729342del , CM000676.2:g.67729338_67729342del GRCh38
NC_000014.8:g.68196055_68196059del , CM000676.1:g.68196055_68196059del GRCh37
NC_000014.7:g.67265808_67265812del NCBI36
NG_008321.1:g.32453_32457del

Transcript Alleles

HGVS Amino-acid Change
ENST00000551171.6:c.806_810del (RDH12) MANE Select ENSP00000449079.1:p.Ala269GlyfsTer2
ENST00000267502.3:c.806_810del (RDH12) ENSP00000267502.3:p.Ala269GlyfsTer2
ENST00000394455.6:n.3158_3162del (ZFYVE26)
ENST00000551171.5:c.806_810del (RDH12) ENSP00000449079.1:p.Ala269GlyfsTer2
ENST00000552873.1:n.175_179del (RDH12)
NM_152443.2:c.806_810del (RDH12) NP_689656.2:p.Ala269GlyfsTer2
XM_017020925.2:c.1313-5857_1313-5853del (GPHN) XP_016876414.1:n.1313-5857_1313-5853del
XM_017021125.1:c.*401_*405del (ZFYVE26) XP_016876614.1:n.*401_*405del
NM_152443.3:c.806_810del (RDH12) MANE Select NP_689656.2:p.Ala269GlyfsTer2