Linked Data
dbSNP Id:
rs775801881
gnomAD v2:
X-32482654-A-ATATTCATACAAAAT
gnomAD v4:
X-32464537-A-ATATTCATACAAAAT
MyVariant Identifiers:
chrX:g.32482654_32482655insTATTCATACAAAAT (hg19)
chrX:g.32464537_32464538insTATTCATACAAAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32464546_32464559dup , CM000685.2:g.32464546_32464559dup | GRCh38 |
| NC_000023.10:g.32482663_32482676dup , CM000685.1:g.32482663_32482676dup | GRCh37 |
| NC_000023.9:g.32392584_32392597dup | NCBI36 |
| NG_012232.1:g.880059_880072dup , LRG_199:g.880059_880072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.3483+35_3483+48dup | ||
| ENST00000357033.9:c.3276+35_3276+48dup MANE Select | ENSP00000354923.3:n.3276+35_3276+48dup | |
| ENST00000357033.8:c.3276+35_3276+48dup | ENSP00000354923.3:n.3276+35_3276+48dup | |
| ENST00000378677.6:c.3264+35_3264+48dup | ENSP00000367948.2:n.3264+35_3264+48dup | |
| ENST00000420596.5:c.94-99352_94-99339dup | ENSP00000399897.1:n.94-99352_94-99339dup | |
| ENST00000448370.5:c.94-99841_94-99828dup | ENSP00000388559.1:n.94-99841_94-99828dup | |
| ENST00000488902.5:n.336-247488_336-247475dup | ||
| ENST00000619831.4:c.3264+35_3264+48dup | ENSP00000479270.1:n.3264+35_3264+48dup | |
| ENST00000620040.4:c.3276+35_3276+48dup | ENSP00000478150.1:n.3276+35_3276+48dup | |
| NM_000109.3:c.3252+35_3252+48dup | NP_000100.2:n.3252+35_3252+48dup | |
| NM_004006.2:c.3276+35_3276+48dup , LRG_199t1:c.3276+35_3276+48dup | NP_003997.1:n.3276+35_3276+48dup | |
| NM_004009.3:c.3264+35_3264+48dup | NP_004000.1:n.3264+35_3264+48dup | |
| NM_004010.3:c.2907+35_2907+48dup | NP_004001.1:n.2907+35_2907+48dup | |
| XM_006724468.2:c.3276+35_3276+48dup | XP_006724531.1:n.3276+35_3276+48dup | |
| XM_006724469.2:c.3252+35_3252+48dup | XP_006724532.1:n.3252+35_3252+48dup | |
| XM_006724470.2:c.3276+35_3276+48dup | XP_006724533.1:n.3276+35_3276+48dup | |
| XM_006724471.2:c.3276+35_3276+48dup | XP_006724534.1:n.3276+35_3276+48dup | |
| XM_006724472.2:c.3147+35_3147+48dup | XP_006724535.1:n.3147+35_3147+48dup | |
| XM_006724473.2:c.3276+35_3276+48dup | XP_006724536.1:n.3276+35_3276+48dup | |
| XM_006724474.2:c.3276+35_3276+48dup | XP_006724537.1:n.3276+35_3276+48dup | |
| XM_006724475.2:c.3276+35_3276+48dup | XP_006724538.1:n.3276+35_3276+48dup | |
| XM_011545467.1:c.3276+35_3276+48dup | XP_011543769.1:n.3276+35_3276+48dup | |
| XM_011545468.1:c.3276+35_3276+48dup | XP_011543770.1:n.3276+35_3276+48dup | |
| XM_011545469.1:c.3276+35_3276+48dup | XP_011543771.1:n.3276+35_3276+48dup | |
| XM_006724469.3:c.3252+35_3252+48dup | XP_006724532.1:n.3252+35_3252+48dup | |
| XM_006724470.3:c.3276+35_3276+48dup | XP_006724533.1:n.3276+35_3276+48dup | |
| XM_006724474.3:c.3276+35_3276+48dup | XP_006724537.1:n.3276+35_3276+48dup | |
| XM_011545468.2:c.3276+35_3276+48dup | XP_011543770.1:n.3276+35_3276+48dup | |
| XM_017029328.1:c.3276+35_3276+48dup | XP_016884817.1:n.3276+35_3276+48dup | |
| XM_017029329.1:c.3276+35_3276+48dup | XP_016884818.1:n.3276+35_3276+48dup | |
| XM_017029330.2:c.3276+35_3276+48dup | XP_016884819.1:n.3276+35_3276+48dup | |
| NM_000109.4:c.3252+35_3252+48dup | NP_000100.3:n.3252+35_3252+48dup | |
| NM_004006.3:c.3276+35_3276+48dup MANE Select | NP_003997.2:n.3276+35_3276+48dup |