Linked Data
ClinVar Variation Id:
345610
ClinVar RCV Id:
RCV000351830
dbSNP Id:
rs764010884
ExAC:
3:47021332 G / GGCCGGA
gnomAD v2:
3-47021332-G-GGCCGGA
gnomAD v3:
3-46979842-G-GGCCGGA
gnomAD v4:
3-46979842-G-GGCCGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46979848_46979853dup , CM000665.2:g.46979848_46979853dup | GRCh38 |
| NC_000003.11:g.47021338_47021343dup , CM000665.1:g.47021338_47021343dup | GRCh37 |
| NC_000003.10:g.46996342_46996347dup | NCBI36 |
| NG_031914.1:g.5166_5171dup , LRG_568:g.5166_5171dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450053.8:c.-14_-9dup (NBEAL2) MANE Select | ENSP00000415034.2:n.-14_-9dup | |
| ENST00000292314.6:c.-73+2084_-73+2089dup (CCDC12) | ENSP00000292314.2:n.-73+2084_-73+2089dup | |
| ENST00000425441.5:c.-215+2084_-215+2089dup (CCDC12) | ENSP00000416263.2:n.-215+2084_-215+2089du... | |
| ENST00000446836.5:c.-112+2084_-112+2089dup (CCDC12) | ENSP00000387490.2:n.-112+2084_-112+2089du... | |
| ENST00000450053.7:c.-14_-9dup (NBEAL2) | ENSP00000415034.2:n.-14_-9dup | |
| ENST00000492819.1:n.79+2084_79+2089dup (CCDC12) | ||
| NM_015175.2:c.-14_-9dup , LRG_568t1:c.-14_-9dup (NBEAL2) | NP_055990.1:n.-14_-9dup | |
| NM_144716.5:c.-73+2084_-73+2089dup (CCDC12) | NP_653317.2:n.-73+2084_-73+2089dup | |
| XM_006713072.2:c.-14_-9dup (NBEAL2) | XP_006713135.1:n.-14_-9dup | |
| XM_011533391.1:c.-73+2084_-73+2089dup (CCDC12) | XP_011531693.1:n.-73+2084_-73+2089dup | |
| XM_011533392.1:c.-10+2084_-10+2089dup (CCDC12) | XP_011531694.1:n.-10+2084_-10+2089dup | |
| XM_011533395.1:c.-176+2084_-176+2089dup (CCDC12) | XP_011531697.1:n.-176+2084_-176+2089dup | |
| XM_011533533.1:c.-14_-9dup (NBEAL2) | XP_011531835.1:n.-14_-9dup | |
| XM_011533534.1:c.-14_-9dup (NBEAL2) | XP_011531836.1:n.-14_-9dup | |
| XR_940397.1:n.163_168dup (NBEAL2) | ||
| XR_940398.1:n.163_168dup (NBEAL2) | ||
| XM_006713072.3:c.-14_-9dup (NBEAL2) | XP_006713135.1:n.-14_-9dup | |
| XM_011533533.2:c.-14_-9dup (NBEAL2) | XP_011531835.1:n.-14_-9dup | |
| XM_017006010.1:c.-14_-9dup (NBEAL2) | XP_016861499.1:n.-14_-9dup | |
| XM_017006012.1:c.-14_-9dup (NBEAL2) | XP_016861501.1:n.-14_-9dup | |
| XM_017006013.1:c.-14_-9dup (NBEAL2) | XP_016861502.1:n.-14_-9dup | |
| XM_017006015.1:c.-14_-9dup (NBEAL2) | XP_016861504.1:n.-14_-9dup | |
| XR_002959493.1:n.152+2084_152+2089dup (CCDC12) | ||
| XR_002959494.1:n.151+2084_151+2089dup (CCDC12) | ||
| XR_940397.2:n.163_168dup (NBEAL2) | ||
| NM_015175.3:c.-14_-9dup (NBEAL2) MANE Select | NP_055990.1:n.-14_-9dup | |
| NM_144716.6:c.-73+2084_-73+2089dup (CCDC12) | NP_653317.2:n.-73+2084_-73+2089dup |