Linked Data
dbSNP Id:
rs1236639144
gnomAD v3:
X-153905325-AGGGCTGGGGCTGGGGCTG-A
gnomAD v4:
X-153905325-AGGGCTGGGGCTGGGGCTG-A
MyVariant Identifiers:
chrX:g.153905326_153905343del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153905338_153905355del , CM000685.2:g.153905338_153905355del | GRCh38 |
| NC_000023.10:g.153170792_153170809del , CM000685.1:g.153170792_153170809del | GRCh37 |
| NC_000023.9:g.152823986_152824003del | NCBI36 |
| NG_008687.1:g.5365_5382del | |
| NG_009645.3:g.8881_8898del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.25+168_26-177del (AVPR2) MANE Select | ENSP00000496396.1:n.25+168_26-177del | |
| ENST00000434679.6:c.25+168_25+185del (AVPR2) | ENSP00000393397.1:n.25+168_25+185del | |
| ENST00000642393.1:c.97+3727_97+3744del | ||
| ENST00000646191.1:c.97+3727_97+3744del | ||
| ENST00000646375.1:c.25+168_26-177del (AVPR2) | ENSP00000496396.1:n.25+168_26-177del | |
| ENST00000337474.5:c.25+168_26-177del (AVPR2) | ENSP00000338072.5:n.25+168_26-177del | |
| ENST00000358927.6:c.25+168_26-177del (AVPR2) | ENSP00000351805.2:n.25+168_26-177del | |
| ENST00000370049.1:c.25+168_26-177del (AVPR2) | ENSP00000359066.1:n.25+168_26-177del | |
| ENST00000430697.1:c.25+168_26-177del (AVPR2) | ENSP00000393513.1:n.25+168_26-177del | |
| ENST00000434679.5:c.25+168_25+185del (AVPR2) | ENSP00000393397.1:n.25+168_25+185del | |
| ENST00000464967.5:n.154+3727_154+3744del (L1CAM) | ||
| NM_000054.4:c.25+168_26-177del (AVPR2) | NP_000045.1:n.25+168_26-177del | |
| NM_001146151.1:c.25+168_26-177del (AVPR2) | NP_001139623.1:n.25+168_26-177del | |
| NR_027419.1:n.559+168_559+185del (AVPR2) | ||
| XM_006724828.2:c.25+168_26-177del (AVPR2) | XP_006724891.1:n.25+168_26-177del | |
| NM_000054.5:c.25+168_26-177del (AVPR2) | NP_000045.1:n.25+168_26-177del | |
| NM_001146151.2:c.25+168_26-177del (AVPR2) | NP_001139623.1:n.25+168_26-177del | |
| XM_006724828.3:c.25+168_26-177del (AVPR2) | XP_006724891.1:n.25+168_26-177del | |
| NM_000054.6:c.25+168_26-177del (AVPR2) | NP_000045.1:n.25+168_26-177del | |
| NM_001146151.3:c.25+168_26-177del (AVPR2) | NP_001139623.1:n.25+168_26-177del | |
| NR_027419.2:n.465+168_465+185del (AVPR2) | ||
| NM_000054.7:c.25+168_26-177del (AVPR2) MANE Select | NP_000045.1:n.25+168_26-177del |