Linked Data
ClinVar Variation Id:
362972
ClinVar RCV Id:
RCV000338462
dbSNP Id:
rs3063734
gnomAD v2:
8-41512648-G-GGT
gnomAD v3:
8-41655129-G-GGT
gnomAD v4:
8-41655129-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41655152_41655153dup , CM000670.2:g.41655152_41655153dup | GRCh38 |
| NC_000008.10:g.41512671_41512672dup , CM000670.1:g.41512671_41512672dup | GRCh37 |
| NC_000008.9:g.41631828_41631829dup | NCBI36 |
| NG_012820.1:g.246631_246632dup | |
| NG_012820.2:g.246632_246633dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265709.14:c.*596_*597dup | ENSP00000265709.8:n.*596_*597dup | |
| ENST00000522543.6:c.*596_*597dup | ENSP00000430368.1:n.*596_*597dup | |
| ENST00000265709.13:c.*596_*597dup | ENSP00000265709.8:n.*596_*597dup | |
| ENST00000289734.13:c.*659_*660dup MANE Select | ENSP00000289734.8:n.*659_*660dup | |
| ENST00000289734.11:c.*659_*660dup | ENSP00000289734.7:n.*659_*660dup | |
| ENST00000347528.8:c.*596_*597dup | ENSP00000339620.4:n.*596_*597dup | |
| NM_000037.3:c.*659_*660dup | NP_000028.3:n.*659_*660dup | |
| NM_001142445.1:c.*596_*597dup | NP_001135917.1:n.*596_*597dup | |
| NM_001142446.1:c.*596_*597dup | NP_001135918.1:n.*596_*597dup | |
| NM_020475.2:c.*596_*597dup | NP_065208.2:n.*596_*597dup | |
| NM_020476.2:c.*596_*597dup | NP_065209.2:n.*596_*597dup | |
| NM_020477.2:c.*596_*597dup | NP_065210.2:n.*596_*597dup | |
| NM_020478.4:c.*659_*660dup | NP_065211.2:n.*659_*660dup | |
| NM_020480.4:c.*596_*597dup | NP_065213.2:n.*596_*597dup | |
| XM_005273476.3:c.*659_*660dup | XP_005273533.1:n.*659_*660dup | |
| XM_011544490.1:c.*596_*597dup | XP_011542792.1:n.*596_*597dup | |
| XM_011544491.1:c.*659_*660dup | XP_011542793.1:n.*659_*660dup | |
| XM_011544492.1:c.*659_*660dup | XP_011542794.1:n.*659_*660dup | |
| XM_011544493.1:c.*596_*597dup | XP_011542795.1:n.*596_*597dup | |
| XM_011544494.1:c.*596_*597dup | XP_011542796.1:n.*596_*597dup | |
| XM_011544495.1:c.*659_*660dup | XP_011542797.1:n.*659_*660dup | |
| XM_011544496.1:c.*596_*597dup | XP_011542798.1:n.*596_*597dup | |
| XM_011544497.1:c.*659_*660dup | XP_011542799.1:n.*659_*660dup | |
| XM_011544498.1:c.*659_*660dup | XP_011542800.1:n.*659_*660dup | |
| XM_011544499.1:c.*596_*597dup | XP_011542801.1:n.*596_*597dup | |
| XM_011544500.1:c.*596_*597dup | XP_011542802.1:n.*596_*597dup | |
| XM_011544501.1:c.*659_*660dup | XP_011542803.1:n.*659_*660dup | |
| XM_011544502.1:c.*596_*597dup | XP_011542804.1:n.*596_*597dup | |
| XM_011544503.1:c.*659_*660dup | XP_011542805.1:n.*659_*660dup | |
| XM_011544504.1:c.*596_*597dup | XP_011542806.1:n.*596_*597dup | |
| XM_011544505.1:c.*659_*660dup | XP_011542807.1:n.*659_*660dup | |
| XM_005273476.4:c.*659_*660dup | XP_005273533.1:n.*659_*660dup | |
| XM_011544490.3:c.*596_*597dup | XP_011542792.1:n.*596_*597dup | |
| XM_011544491.3:c.*659_*660dup | XP_011542793.1:n.*659_*660dup | |
| XM_011544494.3:c.*596_*597dup | XP_011542796.1:n.*596_*597dup | |
| XM_011544495.3:c.*659_*660dup | XP_011542797.1:n.*659_*660dup | |
| XM_011544496.3:c.*596_*597dup | XP_011542798.1:n.*596_*597dup | |
| XM_011544500.2:c.*596_*597dup | XP_011542802.1:n.*596_*597dup | |
| XM_011544501.2:c.*659_*660dup | XP_011542803.1:n.*659_*660dup | |
| XM_011544502.2:c.*596_*597dup | XP_011542804.1:n.*596_*597dup | |
| XM_011544503.3:c.*659_*660dup | XP_011542805.1:n.*659_*660dup | |
| XM_011544504.2:c.*596_*597dup | XP_011542806.1:n.*596_*597dup | |
| XM_011544505.2:c.*659_*660dup | XP_011542807.1:n.*659_*660dup | |
| XM_017013319.2:c.*596_*597dup | XP_016868808.1:n.*596_*597dup | |
| XM_017013320.2:c.*659_*660dup | XP_016868809.1:n.*659_*660dup | |
| XM_017013321.1:c.*596_*597dup | XP_016868810.1:n.*596_*597dup | |
| XM_017013322.1:c.*596_*597dup | XP_016868811.1:n.*596_*597dup | |
| XM_017013323.1:c.*596_*597dup | XP_016868812.1:n.*596_*597dup | |
| XM_017013324.1:c.*596_*597dup | XP_016868813.1:n.*596_*597dup | |
| XM_017013325.1:c.*596_*597dup | XP_016868814.1:n.*596_*597dup | |
| XM_017013326.1:c.*659_*660dup | XP_016868815.1:n.*659_*660dup | |
| XM_017013327.2:c.*596_*597dup | XP_016868816.1:n.*596_*597dup | |
| XM_017013328.2:c.*596_*597dup | XP_016868817.1:n.*596_*597dup | |
| XM_017013329.1:c.*659_*660dup | XP_016868818.1:n.*659_*660dup | |
| XM_024447128.1:c.*596_*597dup | XP_024302896.1:n.*596_*597dup | |
| NM_000037.4:c.*659_*660dup MANE Select | NP_000028.3:n.*659_*660dup | |
| NM_001142445.2:c.*596_*597dup | NP_001135917.1:n.*596_*597dup | |
| NM_001142446.2:c.*596_*597dup | NP_001135918.1:n.*596_*597dup | |
| NM_020475.3:c.*596_*597dup | NP_065208.2:n.*596_*597dup | |
| NM_020476.3:c.*596_*597dup | NP_065209.2:n.*596_*597dup | |
| NM_020477.3:c.*596_*597dup | NP_065210.2:n.*596_*597dup | |
| NM_020478.5:c.*659_*660dup | NP_065211.2:n.*659_*660dup | |
| NM_020480.5:c.*596_*597dup | NP_065213.2:n.*596_*597dup |