Linked Data
dbSNP Id:
rs2098348549
gnomAD v2:
X-32472779-C-CTTTT
gnomAD v3:
X-32454662-C-CTTTT
gnomAD v4:
X-32454662-C-CTTTT
MyVariant Identifiers:
chrX:g.32472779_32472780insTTTT (hg19)
chrX:g.32454662_32454663insTTTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32454664_32454665insTTTT , CM000685.2:g.32454664_32454665insTTTT | GRCh38 |
| NC_000023.10:g.32472781_32472782insTTTT , CM000685.1:g.32472781_32472782insTTTT | GRCh37 |
| NC_000023.9:g.32382702_32382703insTTTT | NCBI36 |
| NG_012232.1:g.889947_889948insAAAA , LRG_199:g.889947_889948insAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.3809_3810insAAAA | ||
| ENST00000357033.9:c.3602_3603insAAAA MANE Select | ENSP00000354923.3:p.Arg1202LysfsTer4 | |
| ENST00000357033.8:c.3602_3603insAAAA | ENSP00000354923.3:p.Arg1202LysfsTer4 | |
| ENST00000378677.6:c.3590_3591insAAAA | ENSP00000367948.2:p.Arg1198LysfsTer4 | |
| ENST00000420596.5:c.94-89464_94-89463insAAAA | ENSP00000399897.1:n.94-89464_94-89463insAAAA | |
| ENST00000448370.5:c.94-89953_94-89952insAAAA | ENSP00000388559.1:n.94-89953_94-89952insAAAA | |
| ENST00000488902.5:n.336-237600_336-237599insAAAA | ||
| ENST00000619831.4:c.3590_3591insAAAA | ENSP00000479270.1:p.Arg1198LysfsTer4 | |
| ENST00000620040.4:c.3602_3603insAAAA | ENSP00000478150.1:p.Arg1202LysfsTer4 | |
| NM_000109.3:c.3578_3579insAAAA | NP_000100.2:p.Arg1194LysfsTer4 | |
| NM_004006.2:c.3602_3603insAAAA , LRG_199t1:c.3602_3603insAAAA | NP_003997.1:p.Arg1202LysfsTer4 | |
| NM_004009.3:c.3590_3591insAAAA | NP_004000.1:p.Arg1198LysfsTer4 | |
| NM_004010.3:c.3233_3234insAAAA | NP_004001.1:p.Arg1079LysfsTer4 | |
| XM_006724468.2:c.3602_3603insAAAA | XP_006724531.1:p.Arg1202LysfsTer4 | |
| XM_006724469.2:c.3578_3579insAAAA | XP_006724532.1:p.Arg1194LysfsTer4 | |
| XM_006724470.2:c.3602_3603insAAAA | XP_006724533.1:p.Arg1202LysfsTer4 | |
| XM_006724471.2:c.3602_3603insAAAA | XP_006724534.1:p.Arg1202LysfsTer4 | |
| XM_006724472.2:c.3473_3474insAAAA | XP_006724535.1:p.Arg1159LysfsTer4 | |
| XM_006724473.2:c.3602_3603insAAAA | XP_006724536.1:p.Arg1202LysfsTer4 | |
| XM_006724474.2:c.3602_3603insAAAA | XP_006724537.1:p.Arg1202LysfsTer4 | |
| XM_006724475.2:c.3602_3603insAAAA | XP_006724538.1:p.Arg1202LysfsTer4 | |
| XM_011545467.1:c.3602_3603insAAAA | XP_011543769.1:p.Arg1202LysfsTer4 | |
| XM_011545468.1:c.3602_3603insAAAA | XP_011543770.1:p.Arg1202LysfsTer4 | |
| XM_011545469.1:c.3602_3603insAAAA | XP_011543771.1:p.Arg1202LysfsTer4 | |
| XM_006724469.3:c.3578_3579insAAAA | XP_006724532.1:p.Arg1194LysfsTer4 | |
| XM_006724470.3:c.3602_3603insAAAA | XP_006724533.1:p.Arg1202LysfsTer4 | |
| XM_006724474.3:c.3602_3603insAAAA | XP_006724537.1:p.Arg1202LysfsTer4 | |
| XM_011545468.2:c.3602_3603insAAAA | XP_011543770.1:p.Arg1202LysfsTer4 | |
| XM_017029328.1:c.3602_3603insAAAA | XP_016884817.1:p.Arg1202LysfsTer4 | |
| XM_017029329.1:c.3602_3603insAAAA | XP_016884818.1:p.Arg1202LysfsTer4 | |
| XM_017029330.2:c.3602_3603insAAAA | XP_016884819.1:p.Arg1202LysfsTer4 | |
| NM_000109.4:c.3578_3579insAAAA | NP_000100.3:p.Arg1194LysfsTer4 | |
| NM_004006.3:c.3602_3603insAAAA MANE Select | NP_003997.2:p.Arg1202LysfsTer4 |