Linked Data
dbSNP Id:
rs782021693
gnomAD v2:
X-153171005-T-TCTGCCCAGC
gnomAD v3:
X-153905551-T-TCTGCCCAGC
gnomAD v4:
X-153905551-T-TCTGCCCAGC
MyVariant Identifiers:
chrX:g.153171005_153171006insCTGCCCAGC (hg19)
chrX:g.153905551_153905552insCTGCCCAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153905561_153905569dup , CM000685.2:g.153905561_153905569dup | GRCh38 |
| NC_000023.10:g.153171015_153171023dup , CM000685.1:g.153171015_153171023dup | GRCh37 |
| NC_000023.9:g.152824209_152824217dup | NCBI36 |
| NG_008687.1:g.5588_5596dup | |
| NG_009645.3:g.8664_8672dup | |
| NG_013220.1:g.25701_25709dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646375.2:c.55_63dup (AVPR2) MANE Select | ENSP00000496396.1:p.Ser21_Asn22insLeuProSer | |
| ENST00000434679.6:c.25+391_25+399dup (AVPR2) | ENSP00000393397.1:n.25+391_25+399dup | |
| ENST00000642393.1:c.97+3510_97+3518dup | ||
| ENST00000646191.1:c.97+3510_97+3518dup | ||
| ENST00000646375.1:c.55_63dup (AVPR2) | ENSP00000496396.1:p.Ser21_Asn22insLeuProSer | |
| ENST00000337474.5:c.55_63dup (AVPR2) | ENSP00000338072.5:p.Ser21_Asn22insLeuProSer | |
| ENST00000358927.6:c.55_63dup (AVPR2) | ENSP00000351805.2:p.Ser21_Asn22insLeuProSer | |
| ENST00000370049.1:c.55_63dup (AVPR2) | ENSP00000359066.1:p.Ser21_Asn22insLeuProSer | |
| ENST00000430697.1:c.55_63dup (AVPR2) | ENSP00000393513.1:p.Ser21_Asn22insLeuProSer | |
| ENST00000434679.5:c.25+391_25+399dup (AVPR2) | ENSP00000393397.1:n.25+391_25+399dup | |
| ENST00000464967.5:n.154+3510_154+3518dup (L1CAM) | ||
| NM_000054.4:c.55_63dup (AVPR2) | NP_000045.1:p.Ser21_Asn22insLeuProSer | |
| NM_001146151.1:c.55_63dup (AVPR2) | NP_001139623.1:p.Ser21_Asn22insLeuProSer | |
| NR_027419.1:n.559+391_559+399dup (AVPR2) | ||
| XM_006724828.2:c.55_63dup (AVPR2) | XP_006724891.1:p.Ser21_Asn22insLeuProSer | |
| NM_000054.5:c.55_63dup (AVPR2) | NP_000045.1:p.Ser21_Asn22insLeuProSer | |
| NM_001146151.2:c.55_63dup (AVPR2) | NP_001139623.1:p.Ser21_Asn22insLeuProSer | |
| XM_006724828.3:c.55_63dup (AVPR2) | XP_006724891.1:p.Ser21_Asn22insLeuProSer | |
| NM_000054.6:c.55_63dup (AVPR2) | NP_000045.1:p.Ser21_Asn22insLeuProSer | |
| NM_001146151.3:c.55_63dup (AVPR2) | NP_001139623.1:p.Ser21_Asn22insLeuProSer | |
| NR_027419.2:n.465+391_465+399dup (AVPR2) | ||
| NM_000054.7:c.55_63dup (AVPR2) MANE Select | NP_000045.1:p.Ser21_Asn22insLeuProSer |