Linked Data
dbSNP Id:
rs1815391675
gnomAD v3:
8-144517576-C-CCCCCGCCG
gnomAD v4:
8-144517576-C-CCCCCGCCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144517586_144517593dup , CM000670.2:g.144517586_144517593dup | GRCh38 |
| NC_000008.10:g.145742970_145742977dup , CM000670.1:g.145742970_145742977dup | GRCh37 |
| NC_000008.9:g.145713778_145713785dup | NCBI36 |
| NG_016430.1:g.5243_5250dup | |
| NG_033083.1:g.4622_4629dup | |
| NG_016430.2:g.5243_5250dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.118+18_118+25dup MANE Select | ENSP00000482313.2:n.118+18_118+25dup | |
| ENST00000534538.1:c.27+18_28-24dup | ||
| ENST00000617875.4:c.118+18_118+25dup | ENSP00000482313.1:n.118+18_118+25dup | |
| ENST00000621189.4:c.-954+18_-954+25dup | ENSP00000483145.1:n.-954+18_-954+25dup | |
| NM_004260.3:c.118+18_118+25dup | NP_004251.3:n.118+18_118+25dup | |
| XM_011517380.1:c.118+18_118+25dup | XP_011515682.1:n.118+18_118+25dup | |
| XM_011517381.1:c.118+18_118+25dup | XP_011515683.1:n.118+18_118+25dup | |
| XM_011517382.1:c.118+18_118+25dup | XP_011515684.1:n.118+18_118+25dup | |
| XM_011517383.1:c.118+18_118+25dup | XP_011515685.1:n.118+18_118+25dup | |
| XM_011517384.1:c.118+18_118+25dup | XP_011515686.1:n.118+18_118+25dup | |
| XR_928366.1:n.159+18_159+25dup | ||
| XR_928367.1:n.159+18_159+25dup | ||
| XR_928368.1:n.161+18_161+25dup | ||
| XM_011517384.3:c.118+18_118+25dup | XP_011515686.1:n.118+18_118+25dup | |
| XM_017013991.2:c.118+18_118+25dup | XP_016869480.1:n.118+18_118+25dup | |
| XM_017013992.2:c.118+18_118+25dup | XP_016869481.1:n.118+18_118+25dup | |
| XM_017013993.2:c.118+18_118+25dup | XP_016869482.1:n.118+18_118+25dup | |
| XM_017013994.2:c.118+18_118+25dup | XP_016869483.1:n.118+18_118+25dup | |
| XM_017013995.2:c.118+18_118+25dup | XP_016869484.1:n.118+18_118+25dup | |
| XM_017013996.2:c.118+18_118+25dup | XP_016869485.1:n.118+18_118+25dup | |
| XM_017013997.2:c.118+18_118+25dup | XP_016869486.1:n.118+18_118+25dup | |
| XM_017013998.1:c.118+18_118+25dup | XP_016869487.1:n.118+18_118+25dup | |
| XM_017013999.2:c.118+18_118+25dup | XP_016869488.1:n.118+18_118+25dup | |
| XR_001745626.2:n.155+18_155+25dup | ||
| XR_001745627.2:n.155+18_155+25dup | ||
| XR_001745628.2:n.155+18_155+25dup | ||
| XR_001745629.2:n.155+18_155+25dup | ||
| XR_001745630.2:n.155+18_155+25dup | ||
| NM_004260.4:c.118+18_118+25dup MANE Select | NP_004251.4:n.118+18_118+25dup |