Linked Data
dbSNP Id:
rs1938382361
gnomAD v3:
3-143286357-TACAGGCTGTGACC-T
gnomAD v4:
3-143286357-TACAGGCTGTGACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143286358_143286370del , CM000665.2:g.143286358_143286370del | GRCh38 |
| NC_000003.11:g.143005200_143005212del , CM000665.1:g.143005200_143005212del | GRCh37 |
| NC_000003.10:g.144487890_144487902del | NCBI36 |
| NG_017077.1:g.567162_567174del | |
| NG_017077.2:g.567162_567174del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1605-17390_1605-17378del MANE Select | ENSP00000320246.6:n.1605-17390_1605-17378del | |
| ENST00000316549.10:c.1605-17390_1605-17378del | ENSP00000320246.6:n.1605-17390_1605-17378del | |
| NM_173653.3:c.1605-17390_1605-17378del | NP_775924.1:n.1605-17390_1605-17378del | |
| XM_011512703.1:c.957-17390_957-17378del | XP_011511005.1:n.957-17390_957-17378del | |
| XM_011512703.3:c.957-17390_957-17378del | XP_011511005.1:n.957-17390_957-17378del | |
| XM_017006202.2:c.1712-2028_1712-2016del | XP_016861691.1:n.1712-2028_1712-2016del | |
| XM_017006203.1:c.1254-17390_1254-17378del | XP_016861692.1:n.1254-17390_1254-17378del | |
| NM_173653.4:c.1605-17390_1605-17378del MANE Select | NP_775924.1:n.1605-17390_1605-17378del |