Linked Data
dbSNP Id:
rs1556464875
gnomAD v2:
X-37642805-CTTGCCAGTCTGTCGAAA-C
gnomAD v4:
X-37783552-CTTGCCAGTCTGTCGAAA-C
MyVariant Identifiers:
chrX:g.37642806_37642822del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37783554_37783570del , CM000685.2:g.37783554_37783570del | GRCh38 |
| NC_000023.10:g.37642807_37642823del , CM000685.1:g.37642807_37642823del | GRCh37 |
| NC_000023.9:g.37527751_37527767del | NCBI36 |
| NG_009065.1:g.8538_8554del , LRG_53:g.8538_8554del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.206_222del | ENSP00000512461.1:p.Leu69SerfsTer28 | |
| ENST00000696171.1:c.110_126del | ENSP00000512462.1:p.Leu37SerfsTer28 | |
| ENST00000696172.1:c.206_222del | ENSP00000512463.1:p.Leu69SerfsTer28 | |
| ENST00000696173.1:n.214_230del | ||
| ENST00000378588.5:c.206_222del MANE Select | ENSP00000367851.4:p.Leu69SerfsTer28 | |
| ENST00000378588.4:c.206_222del | ENSP00000367851.4:p.Leu69SerfsTer28 | |
| ENST00000465127.1:c.171+357554_171+357570del | ENSP00000417050.1:n.171+357554_171+357570del | |
| NM_000397.3:c.206_222del , LRG_53t1:c.206_222del | NP_000388.2:p.Leu69SerfsTer28 | |
| XM_011543890.1:c.-225_-209del | XP_011542192.1:n.-225_-209del | |
| NM_000397.4:c.206_222del MANE Select | NP_000388.2:p.Leu69SerfsTer28 |