Linked Data
ClinVar Variation Id:
1174745
dbSNP Id:
rs5902031
ExAC:
X:32472763 C / CTT
gnomAD v2:
X-32472763-C-CTT
gnomAD v3:
X-32454646-C-CTT
gnomAD v4:
X-32454646-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.32454658_32454659dup , CM000685.2:g.32454658_32454659dup | GRCh38 |
| NC_000023.10:g.32472775_32472776dup , CM000685.1:g.32472775_32472776dup | GRCh37 |
| NC_000023.9:g.32382696_32382697dup | NCBI36 |
| NG_012232.1:g.889962_889963dup , LRG_199:g.889962_889963dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682899.1:n.3810+14_3810+15dup | ||
| ENST00000357033.9:c.3603+14_3603+15dup MANE Select | ENSP00000354923.3:n.3603+14_3603+15dup | |
| ENST00000357033.8:c.3603+14_3603+15dup | ENSP00000354923.3:n.3603+14_3603+15dup | |
| ENST00000378677.6:c.3591+14_3591+15dup | ENSP00000367948.2:n.3591+14_3591+15dup | |
| ENST00000420596.5:c.94-89449_94-89448dup | ENSP00000399897.1:n.94-89449_94-89448dup | |
| ENST00000448370.5:c.94-89938_94-89937dup | ENSP00000388559.1:n.94-89938_94-89937dup | |
| ENST00000488902.5:n.336-237585_336-237584dup | ||
| ENST00000619831.4:c.3591+14_3591+15dup | ENSP00000479270.1:n.3591+14_3591+15dup | |
| ENST00000620040.4:c.3603+14_3603+15dup | ENSP00000478150.1:n.3603+14_3603+15dup | |
| NM_000109.3:c.3579+14_3579+15dup | NP_000100.2:n.3579+14_3579+15dup | |
| NM_004006.2:c.3603+14_3603+15dup , LRG_199t1:c.3603+14_3603+15dup | NP_003997.1:n.3603+14_3603+15dup | |
| NM_004009.3:c.3591+14_3591+15dup | NP_004000.1:n.3591+14_3591+15dup | |
| NM_004010.3:c.3234+14_3234+15dup | NP_004001.1:n.3234+14_3234+15dup | |
| XM_006724468.2:c.3603+14_3603+15dup | XP_006724531.1:n.3603+14_3603+15dup | |
| XM_006724469.2:c.3579+14_3579+15dup | XP_006724532.1:n.3579+14_3579+15dup | |
| XM_006724470.2:c.3603+14_3603+15dup | XP_006724533.1:n.3603+14_3603+15dup | |
| XM_006724471.2:c.3603+14_3603+15dup | XP_006724534.1:n.3603+14_3603+15dup | |
| XM_006724472.2:c.3474+14_3474+15dup | XP_006724535.1:n.3474+14_3474+15dup | |
| XM_006724473.2:c.3603+14_3603+15dup | XP_006724536.1:n.3603+14_3603+15dup | |
| XM_006724474.2:c.3603+14_3603+15dup | XP_006724537.1:n.3603+14_3603+15dup | |
| XM_006724475.2:c.3603+14_3603+15dup | XP_006724538.1:n.3603+14_3603+15dup | |
| XM_011545467.1:c.3603+14_3603+15dup | XP_011543769.1:n.3603+14_3603+15dup | |
| XM_011545468.1:c.3603+14_3603+15dup | XP_011543770.1:n.3603+14_3603+15dup | |
| XM_011545469.1:c.3603+14_3603+15dup | XP_011543771.1:n.3603+14_3603+15dup | |
| XM_006724469.3:c.3579+14_3579+15dup | XP_006724532.1:n.3579+14_3579+15dup | |
| XM_006724470.3:c.3603+14_3603+15dup | XP_006724533.1:n.3603+14_3603+15dup | |
| XM_006724474.3:c.3603+14_3603+15dup | XP_006724537.1:n.3603+14_3603+15dup | |
| XM_011545468.2:c.3603+14_3603+15dup | XP_011543770.1:n.3603+14_3603+15dup | |
| XM_017029328.1:c.3603+14_3603+15dup | XP_016884817.1:n.3603+14_3603+15dup | |
| XM_017029329.1:c.3603+14_3603+15dup | XP_016884818.1:n.3603+14_3603+15dup | |
| XM_017029330.2:c.3603+14_3603+15dup | XP_016884819.1:n.3603+14_3603+15dup | |
| NM_000109.4:c.3579+14_3579+15dup | NP_000100.3:n.3579+14_3579+15dup | |
| NM_004006.3:c.3603+14_3603+15dup MANE Select | NP_003997.2:n.3603+14_3603+15dup |