Linked Data
dbSNP Id:
rs767319580
ExAC:
3:48615802 TGG / T
gnomAD v2:
3-48615802-TGG-T
gnomAD v4:
3-48578369-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48578371_48578372del , CM000665.2:g.48578371_48578372del | GRCh38 |
| NC_000003.11:g.48615804_48615805del , CM000665.1:g.48615804_48615805del | GRCh37 |
| NC_000003.10:g.48590808_48590809del | NCBI36 |
| NG_007065.1:g.21882_21883del , LRG_286:g.21882_21883del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681320.1:c.5488-6_5488-5del MANE Select | ENSP00000506558.1:n.5488-6_5488-5del | |
| ENST00000328333.12:c.5488-6_5488-5del | ENSP00000332371.8:n.5488-6_5488-5del | |
| ENST00000487017.5:n.1405-6_1405-5del | ||
| NM_000094.3:c.5488-6_5488-5del , LRG_286t1:c.5488-6_5488-5del | NP_000085.1:n.5488-6_5488-5del | |
| XM_011533336.1:c.5515-6_5515-5del | XP_011531638.1:n.5515-6_5515-5del | |
| XM_011533337.1:c.5488-6_5488-5del | XP_011531639.1:n.5488-6_5488-5del | |
| XM_011533338.1:c.5515-6_5515-5del | XP_011531640.1:n.5515-6_5515-5del | |
| XM_011533339.1:c.5515-6_5515-5del | XP_011531641.1:n.5515-6_5515-5del | |
| XM_011533340.1:c.5515-6_5515-5del | XP_011531642.1:n.5515-6_5515-5del | |
| XM_011533341.1:c.5515-6_5515-5del | XP_011531643.1:n.5515-6_5515-5del | |
| XM_011533342.1:c.5515-6_5515-5del | XP_011531644.1:n.5515-6_5515-5del | |
| XR_940369.1:n.5551-6_5551-5del | ||
| XR_940370.1:n.5551-6_5551-5del | ||
| XR_940371.1:n.5551-6_5551-5del | ||
| XR_940372.1:n.5551-6_5551-5del | ||
| XR_940373.1:n.5551-6_5551-5del | ||
| XR_940374.1:n.5551-6_5551-5del | ||
| XR_940375.1:n.5551-6_5551-5del | ||
| XM_017005688.1:c.5488-6_5488-5del | XP_016861177.1:n.5488-6_5488-5del | |
| XM_017005689.1:c.5488-6_5488-5del | XP_016861178.1:n.5488-6_5488-5del | |
| XM_017005690.1:c.5488-6_5488-5del | XP_016861179.1:n.5488-6_5488-5del | |
| XM_017005691.1:c.5488-6_5488-5del | XP_016861180.1:n.5488-6_5488-5del | |
| XM_017005692.1:c.5488-6_5488-5del | XP_016861181.1:n.5488-6_5488-5del | |
| XR_001740003.1:n.5524-6_5524-5del | ||
| XR_001740004.1:n.5524-6_5524-5del | ||
| XR_001740005.1:n.5524-6_5524-5del | ||
| XR_001740006.1:n.5524-6_5524-5del | ||
| XR_001740007.1:n.5524-6_5524-5del | ||
| XR_001740008.1:n.5524-6_5524-5del | ||
| XR_001740009.1:n.5524-6_5524-5del | ||
| NM_000094.4:c.5488-6_5488-5del MANE Select | NP_000085.1:n.5488-6_5488-5del |