Canonical Allele Identifier: CA339935
Gene: RDH12 HGNC NCBI
ZFYVE26 HGNC NCBI
GPHN HGNC NCBI

Linked Data

ClinVar Variation Id: 2047
ClinVar RCV Id: RCV000002128 RCV000504734 RCV000504920 RCV000678608 RCV000726539 RCV000779141 RCV001277207
dbSNP Id: rs386834261
ExAC: 14:68196053 CGCCCT / C
gnomAD v2: 14-68196053-CGCCCT-C
gnomAD v3: 14-67729336-CGCCCT-C
gnomAD v4: 14-67729336-CGCCCT-C
MyVariant Identifiers: chr14:g.68196055_68196059del (hg19) chr14:g.68196054_68196058del (hg19) chr14:g.67729338_67729342del (hg38) chr14:g.67729337_67729341del (hg38)
PubMed: PMID:15258582 PMID:15322982 PMID:20301475 PMID:28041643
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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
Search 100 bp 5'
Search 100 bp 3'