Linked Data
dbSNP Id:
rs75172865
gnomAD v2:
12-1595583-C-CTTTAT
gnomAD v3:
12-1486417-C-CTTTAT
gnomAD v4:
12-1486417-C-CTTTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1486436_1486440dup , CM000674.2:g.1486436_1486440dup | GRCh38 |
| NC_000012.11:g.1595602_1595606dup , CM000674.1:g.1595602_1595606dup | GRCh37 |
| NC_000012.10:g.1465863_1465867dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397203.7:c.3214-3657_3214-3653dup | ENSP00000380386.4:n.3214-3657_3214-3653du... | |
| ENST00000589028.6:c.3214-3657_3214-3653dup | ENSP00000468263.1:n.3214-3657_3214-3653du... | |
| ENST00000691140.1:n.561-3657_561-3653dup | ||
| ENST00000360905.9:c.3214-3657_3214-3653dup MANE Select | ENSP00000354158.3:n.3214-3657_3214-3653du... | |
| ENST00000347735.10:c.*228-3657_*228-3653dup | ENSP00000340054.6:n.*228-3657_*228-3653du... | |
| ENST00000355446.9:c.*9-3657_*9-3653dup | ENSP00000347621.5:n.*9-3657_*9-3653dup | |
| ENST00000360905.8:c.3214-3657_3214-3653dup | ENSP00000354158.3:n.3214-3657_3214-3653du... | |
| ENST00000397203.6:c.3130-3657_3130-3653dup | ENSP00000380386.3:n.3130-3657_3130-3653du... | |
| ENST00000440394.7:c.*228-3657_*228-3653dup | ENSP00000410064.2:n.*228-3657_*228-3653du... | |
| ENST00000542302.6:c.*228-3657_*228-3653dup | ENSP00000445336.2:n.*228-3657_*228-3653du... | |
| ENST00000543086.7:c.3130-3657_3130-3653dup | ENSP00000438546.1:n.3130-3657_3130-3653du... | |
| ENST00000543151.1:n.1461-3657_1461-3653dup | ||
| ENST00000545948.5:c.*228-3657_*228-3653dup | ENSP00000442976.1:n.*228-3657_*228-3653du... | |
| ENST00000546231.6:c.3226-3657_3226-3653dup | ENSP00000442739.2:n.3226-3657_3226-3653du... | |
| ENST00000588412.5:c.1085-3657_1085-3653dup | ||
| ENST00000589028.5:c.3214-3657_3214-3653dup | ENSP00000468263.1:n.3214-3657_3214-3653du... | |
| ENST00000611180.4:c.*228-3657_*228-3653dup | ENSP00000479523.1:n.*228-3657_*228-3653du... | |
| NM_001301248.1:c.*9-3657_*9-3653dup | NP_001288177.1:n.*9-3657_*9-3653dup | |
| NM_178039.3:c.3130-3657_3130-3653dup | NP_829883.1:n.3130-3657_3130-3653dup | |
| NM_178040.3:c.3214-3657_3214-3653dup | NP_829884.1:n.3214-3657_3214-3653dup | |
| NR_027946.2:n.3511-3657_3511-3653dup | ||
| NR_027948.2:n.3643-3657_3643-3653dup | ||
| NR_027949.2:n.2662-3657_2662-3653dup | ||
| XM_011520936.1:c.3319-3657_3319-3653dup | XP_011519238.1:n.3319-3657_3319-3653dup | |
| XM_011520937.1:c.3235-3657_3235-3653dup | XP_011519239.1:n.3235-3657_3235-3653dup | |
| XM_011520938.1:c.3356-3657_3356-3653dup | XP_011519240.1:n.3356-3657_3356-3653dup | |
| XM_011520939.1:c.3226-3657_3226-3653dup | XP_011519241.1:n.3226-3657_3226-3653dup | |
| XM_011520940.1:c.3223-3657_3223-3653dup | XP_011519242.1:n.3223-3657_3223-3653dup | |
| XM_011520941.1:c.3214-3657_3214-3653dup | XP_011519243.1:n.3214-3657_3214-3653dup | |
| XM_011520942.1:c.3130-3657_3130-3653dup | XP_011519244.1:n.3130-3657_3130-3653dup | |
| XR_931508.1:n.3597-3657_3597-3653dup | ||
| XR_931510.1:n.3584-3657_3584-3653dup | ||
| XM_011520941.2:c.3214-3657_3214-3653dup | XP_011519243.1:n.3214-3657_3214-3653dup | |
| XM_017019052.1:c.3289-3657_3289-3653dup | XP_016874541.1:n.3289-3657_3289-3653dup | |
| XM_017019053.1:c.3289-3657_3289-3653dup | XP_016874542.1:n.3289-3657_3289-3653dup | |
| XM_017019054.1:c.3289-3657_3289-3653dup | XP_016874543.1:n.3289-3657_3289-3653dup | |
| XM_017019055.2:c.3289-3657_3289-3653dup | XP_016874544.1:n.3289-3657_3289-3653dup | |
| XM_017019056.1:c.3289-3657_3289-3653dup | XP_016874545.1:n.3289-3657_3289-3653dup | |
| XM_017019057.1:c.3280-3657_3280-3653dup | XP_016874546.1:n.3280-3657_3280-3653dup | |
| XM_017019058.1:c.3280-3657_3280-3653dup | XP_016874547.1:n.3280-3657_3280-3653dup | |
| XM_017019059.1:c.3277-3657_3277-3653dup | XP_016874548.1:n.3277-3657_3277-3653dup | |
| XM_017019060.1:c.3268-3657_3268-3653dup | XP_016874549.1:n.3268-3657_3268-3653dup | |
| XM_017019061.1:c.3235-3657_3235-3653dup | XP_016874550.1:n.3235-3657_3235-3653dup | |
| XM_017019062.1:c.3226-3657_3226-3653dup | XP_016874551.1:n.3226-3657_3226-3653dup | |
| XM_017019063.1:c.3223-3657_3223-3653dup | XP_016874552.1:n.3223-3657_3223-3653dup | |
| XM_017019064.1:c.3214-3657_3214-3653dup | XP_016874553.1:n.3214-3657_3214-3653dup | |
| XM_017019065.1:c.3196-3657_3196-3653dup | XP_016874554.1:n.3196-3657_3196-3653dup | |
| XM_017019066.1:c.3142-3657_3142-3653dup | XP_016874555.1:n.3142-3657_3142-3653dup | |
| XM_017019067.1:c.3130-3657_3130-3653dup | XP_016874556.1:n.3130-3657_3130-3653dup | |
| XM_017019068.1:c.*9-3657_*9-3653dup | XP_016874557.1:n.*9-3657_*9-3653dup | |
| XM_017019069.1:c.3103-3657_3103-3653dup | XP_016874558.1:n.3103-3657_3103-3653dup | |
| XM_017019070.1:c.3082-3657_3082-3653dup | XP_016874559.1:n.3082-3657_3082-3653dup | |
| XM_017019071.1:c.3010-3657_3010-3653dup | XP_016874560.1:n.3010-3657_3010-3653dup | |
| XM_017019074.1:c.1501-3657_1501-3653dup | XP_016874563.1:n.1501-3657_1501-3653dup | |
| XM_017019075.1:c.1447-3657_1447-3653dup | XP_016874564.1:n.1447-3657_1447-3653dup | |
| XR_001748632.1:n.3681-3657_3681-3653dup | ||
| XR_001748633.1:n.3669-3657_3669-3653dup | ||
| XR_001748634.1:n.3777-3657_3777-3653dup | ||
| XR_001748635.1:n.3448-3657_3448-3653dup | ||
| XR_001748636.1:n.3549-3657_3549-3653dup | ||
| XR_001748637.1:n.3540-3657_3540-3653dup | ||
| NM_178040.4:c.3214-3657_3214-3653dup MANE Select | NP_829884.1:n.3214-3657_3214-3653dup | |
| NM_178039.4:c.3130-3657_3130-3653dup | NP_829883.1:n.3130-3657_3130-3653dup | |
| NR_027946.3:n.3496-3657_3496-3653dup | ||
| NR_027948.3:n.3628-3657_3628-3653dup | ||
| NR_027949.3:n.2647-3657_2647-3653dup |