Linked Data
dbSNP Id:
rs772071386
ExAC:
4:187188357 GTTATC / G
gnomAD v2:
4-187188357-GTTATC-G
gnomAD v4:
4-186267203-GTTATC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186267207_186267211del , CM000666.2:g.186267207_186267211del | GRCh38 |
| NC_000004.11:g.187188361_187188365del , CM000666.1:g.187188361_187188365del | GRCh37 |
| NC_000004.10:g.187425355_187425359del | NCBI36 |
| NG_008051.1:g.6244_6248del , LRG_583:g.6244_6248del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.55+16_55+20del MANE Select | ENSP00000384957.2:n.55+16_55+20del | |
| ENST00000264692.8:c.55+16_55+20del | ENSP00000264692.5:n.55+16_55+20del | |
| ENST00000403665.6:c.55+16_55+20del | ENSP00000384957.2:n.55+16_55+20del | |
| ENST00000492972.6:c.55+16_55+20del | ENSP00000424479.1:n.55+16_55+20del | |
| NM_000128.3:c.55+16_55+20del , LRG_583t1:c.55+16_55+20del | NP_000119.1:n.55+16_55+20del | |
| XM_005262821.2:c.55+16_55+20del | XP_005262878.1:n.55+16_55+20del | |
| XM_005262822.2:c.55+16_55+20del | XP_005262879.1:n.55+16_55+20del | |
| XM_005262823.2:c.55+16_55+20del | XP_005262880.1:n.55+16_55+20del | |
| XM_005262824.1:c.55+16_55+20del | XP_005262881.1:n.55+16_55+20del | |
| XM_006714137.1:c.55+16_55+20del | XP_006714200.1:n.55+16_55+20del | |
| XR_938706.1:n.407+16_407+20del | ||
| XR_938707.1:n.407+16_407+20del | ||
| NM_001354804.1:c.55+16_55+20del | NP_001341733.1:n.55+16_55+20del | |
| XM_005262821.4:c.55+16_55+20del | XP_005262878.1:n.55+16_55+20del | |
| XM_005262822.4:c.55+16_55+20del | XP_005262879.1:n.55+16_55+20del | |
| XM_005262823.4:c.55+16_55+20del | XP_005262880.1:n.55+16_55+20del | |
| XM_006714137.3:c.55+16_55+20del | XP_006714200.1:n.55+16_55+20del | |
| XM_017007884.2:c.55+16_55+20del | XP_016863373.1:n.55+16_55+20del | |
| XM_017007885.2:c.55+16_55+20del | XP_016863374.1:n.55+16_55+20del | |
| XM_017007886.2:c.55+16_55+20del | XP_016863375.1:n.55+16_55+20del | |
| XR_001741172.2:n.388+16_388+20del | ||
| NM_000128.4:c.55+16_55+20del MANE Select | NP_000119.1:n.55+16_55+20del | |
| NM_001354804.2:c.55+16_55+20del | NP_001341733.1:n.55+16_55+20del |