Linked Data
dbSNP Id:
rs782205806
ExAC:
X:37655157 G / GTGTGTC
MyVariant Identifiers:
chrX:g.37655157_37655158insTGTGTC (hg19)
chrX:g.37795904_37795905insTGTGTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37795909_37795910insCTGTGT , CM000685.2:g.37795909_37795910insCTGTGT | GRCh38 |
| NC_000023.10:g.37655162_37655163insCTGTGT , CM000685.1:g.37655162_37655163insCTGTGT | GRCh37 |
| NC_000023.9:g.37540102_37540103insCTGTGT | NCBI36 |
| NG_009065.1:g.20889_20890insCTGTGT , LRG_53:g.20889_20890insCTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.338-42_338-41insCTGTGT | ENSP00000512461.1:n.338-42_338-41insCTGTGT | |
| ENST00000696171.1:c.388-42_388-41insCTGTGT | ENSP00000512462.1:n.388-42_388-41insCTGTGT | |
| ENST00000696172.1:c.338-3046_338-3045insCTGTGT | ENSP00000512463.1:n.338-3046_338-3045insCTGTGT | |
| ENST00000378588.5:c.484-42_484-41insCTGTGT MANE Select | ENSP00000367851.4:n.484-42_484-41insCTGTGT | |
| ENST00000378588.4:c.484-42_484-41insCTGTGT | ENSP00000367851.4:n.484-42_484-41insCTGTGT | |
| ENST00000465127.1:c.171+369909_171+369910insCTGTGT | ENSP00000417050.1:n.171+369909_171+369910insCTGTGT | |
| NM_000397.3:c.484-42_484-41insCTGTGT , LRG_53t1:c.484-42_484-41insCTGTGT | NP_000388.2:n.484-42_484-41insCTGTGT | |
| XM_011543890.1:c.178-42_178-41insCTGTGT | XP_011542192.1:n.178-42_178-41insCTGTGT | |
| NM_000397.4:c.484-42_484-41insCTGTGT MANE Select | NP_000388.2:n.484-42_484-41insCTGTGT |