Linked Data
dbSNP Id:
rs1568378432
gnomAD v2:
19-1056087-GGCC-G
gnomAD v4:
19-1056088-GGCC-G
MyVariant Identifiers:
chr19:g.1056088_1056090del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1056090_1056092del , CM000681.2:g.1056090_1056092del | GRCh38 |
| NC_000019.9:g.1056089_1056091del , CM000681.1:g.1056089_1056091del | GRCh37 |
| NC_000019.8:g.1007089_1007091del | NCBI36 |
| NG_046909.1:g.20988_20990del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263094.11:c.4263_4265del MANE Select | ENSP00000263094.6:p.Arg1422del | |
| ENST00000433129.6:n.4563_4565del | ||
| ENST00000435683.7:c.1748_1750del | ENSP00000465322.2:n.1748_1750del | |
| ENST00000673773.1:n.106_108del | ||
| ENST00000263094.10:c.4263_4265del | ENSP00000263094.6:p.Arg1422del | |
| ENST00000433129.5:c.4263_4265del | ENSP00000414062.1:p.Arg1422del | |
| ENST00000435683.6:c.3849_3851del | ENSP00000465322.1:p.Arg1284del | |
| NM_019112.3:c.4263_4265del | NP_061985.2:p.Arg1422del | |
| XM_006722616.1:c.4263_4265del | XP_006722679.1:p.Arg1422del | |
| XM_006722617.2:c.4263_4265del | XP_006722680.1:p.Arg1422del | |
| XM_006722618.2:c.1920_1922del | XP_006722681.1:p.Arg641del | |
| XM_011527628.1:c.4263_4265del | XP_011525930.1:p.Arg1422del | |
| XM_011527629.1:c.4236_4238del | XP_011525931.1:p.Arg1413del | |
| XM_011527630.1:c.4263_4265del | XP_011525932.1:p.Arg1422del | |
| XM_011527631.1:c.4263_4265del | XP_011525933.1:p.Arg1422del | |
| XM_011527632.1:c.3807_3809del | XP_011525934.1:p.Arg1270del | |
| XM_011527633.1:c.4263_4265del | XP_011525935.1:p.Arg1422del | |
| XM_011527634.1:c.4263_4265del | XP_011525936.1:p.Arg1422del | |
| XM_011527635.1:c.4263_4265del | XP_011525937.1:p.Arg1422del | |
| XM_011527636.1:c.1920_1922del | XP_011525938.1:p.Arg641del | |
| XR_936148.1:n.4481_4483del | ||
| XR_936149.1:n.4481_4483del | ||
| XR_936150.1:n.4481_4483del | ||
| XR_936151.1:n.4481_4483del | ||
| XR_936152.1:n.4481_4483del | ||
| XR_936153.1:n.4481_4483del | ||
| XR_936154.1:n.4481_4483del | ||
| XM_011527633.2:c.4263_4265del | XP_011525935.1:p.Arg1422del | |
| XM_017026143.1:c.4263_4265del | XP_016881632.1:p.Arg1422del | |
| XM_024451315.1:c.4263_4265del | XP_024307083.1:p.Arg1422del | |
| XM_024451316.1:c.4263_4265del | XP_024307084.1:p.Arg1422del | |
| XM_024451317.1:c.4236_4238del | XP_024307085.1:p.Arg1413del | |
| XM_024451318.1:c.4263_4265del | XP_024307086.1:p.Arg1422del | |
| XM_024451319.1:c.4263_4265del | XP_024307087.1:p.Arg1422del | |
| XM_024451320.1:c.4008_4010del | XP_024307088.1:p.Arg1337del | |
| XM_024451321.1:c.4263_4265del | XP_024307089.1:p.Arg1422del | |
| XM_024451322.1:c.3807_3809del | XP_024307090.1:p.Arg1270del | |
| XM_024451323.1:c.4263_4265del | XP_024307091.1:p.Arg1422del | |
| XM_024451324.1:c.1920_1922del | XP_024307092.1:p.Arg641del | |
| XM_024451325.1:c.1920_1922del | XP_024307093.1:p.Arg641del | |
| XR_001753585.1:n.4481_4483del | ||
| XR_001753586.1:n.4481_4483del | ||
| XR_002958240.1:n.4481_4483del | ||
| XR_002958241.1:n.4481_4483del | ||
| XR_002958242.1:n.4481_4483del | ||
| NM_019112.4:c.4263_4265del MANE Select | NP_061985.2:p.Arg1422del |