Linked Data
dbSNP Id:
rs782395984
ExAC:
X:153170949 CCTCT / C
gnomAD v2:
X-153170949-CCTCT-C
gnomAD v3:
X-153905495-CCTCT-C
gnomAD v4:
X-153905495-CCTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153905498_153905501del , CM000685.2:g.153905498_153905501del | GRCh38 |
| NC_000023.10:g.153170952_153170955del , CM000685.1:g.153170952_153170955del | GRCh37 |
| NC_000023.9:g.152824146_152824149del | NCBI36 |
| NG_008687.1:g.5525_5528del | |
| NG_009645.3:g.8725_8728del | |
| NG_013220.1:g.25762_25765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.26-34_26-31del (AVPR2) MANE Select | ENSP00000496396.1:n.26-34_26-31del | |
| ENST00000434679.6:c.25+328_25+331del (AVPR2) | ENSP00000393397.1:n.25+328_25+331del | |
| ENST00000642393.1:c.97+3571_97+3574del | ||
| ENST00000646191.1:c.97+3571_97+3574del | ||
| ENST00000646375.1:c.26-34_26-31del (AVPR2) | ENSP00000496396.1:n.26-34_26-31del | |
| ENST00000337474.5:c.26-34_26-31del (AVPR2) | ENSP00000338072.5:n.26-34_26-31del | |
| ENST00000358927.6:c.26-34_26-31del (AVPR2) | ENSP00000351805.2:n.26-34_26-31del | |
| ENST00000370049.1:c.26-34_26-31del (AVPR2) | ENSP00000359066.1:n.26-34_26-31del | |
| ENST00000430697.1:c.26-34_26-31del (AVPR2) | ENSP00000393513.1:n.26-34_26-31del | |
| ENST00000434679.5:c.25+328_25+331del (AVPR2) | ENSP00000393397.1:n.25+328_25+331del | |
| ENST00000464967.5:n.154+3571_154+3574del (L1CAM) | ||
| NM_000054.4:c.26-34_26-31del (AVPR2) | NP_000045.1:n.26-34_26-31del | |
| NM_001146151.1:c.26-34_26-31del (AVPR2) | NP_001139623.1:n.26-34_26-31del | |
| NR_027419.1:n.559+328_559+331del (AVPR2) | ||
| XM_006724828.2:c.26-34_26-31del (AVPR2) | XP_006724891.1:n.26-34_26-31del | |
| NM_000054.5:c.26-34_26-31del (AVPR2) | NP_000045.1:n.26-34_26-31del | |
| NM_001146151.2:c.26-34_26-31del (AVPR2) | NP_001139623.1:n.26-34_26-31del | |
| XM_006724828.3:c.26-34_26-31del (AVPR2) | XP_006724891.1:n.26-34_26-31del | |
| NM_000054.6:c.26-34_26-31del (AVPR2) | NP_000045.1:n.26-34_26-31del | |
| NM_001146151.3:c.26-34_26-31del (AVPR2) | NP_001139623.1:n.26-34_26-31del | |
| NR_027419.2:n.465+328_465+331del (AVPR2) | ||
| NM_000054.7:c.26-34_26-31del (AVPR2) MANE Select | NP_000045.1:n.26-34_26-31del |