Linked Data
ClinVar Variation Id:
2047
ClinVar RCV Id:
RCV000002128
RCV000504734
RCV000504920
RCV000726539
RCV000678608
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
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 |