Linked Data
dbSNP Id:
rs1268341828
gnomAD v2:
16-5130881-TG-T
gnomAD v3:
16-5080880-TG-T
gnomAD v4:
16-5080880-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5080883del , CM000678.2:g.5080883del | GRCh38 |
| NC_000016.9:g.5130884del , CM000678.1:g.5130884del | GRCh37 |
| NC_000016.8:g.5070885del | NCBI36 |
| NG_009202.1:g.14075del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3098-63del | ||
| ENST00000682020.1:c.368-63del | ENSP00000508075.1:n.368-63del | |
| ENST00000682206.1:c.*54-63del | ENSP00000508285.1:n.*54-63del | |
| ENST00000682314.1:n.1010-63del | ||
| ENST00000682327.1:c.434-63del | ENSP00000507058.1:n.434-63del | |
| ENST00000682349.1:n.3104-63del | ||
| ENST00000682703.1:n.3930-63del | ||
| ENST00000682797.1:c.*54-63del | ENSP00000507582.1:n.*54-63del | |
| ENST00000682985.1:c.473-63del | ENSP00000507598.1:n.473-63del | |
| ENST00000683433.1:c.218-63del | ENSP00000507463.1:n.218-63del | |
| ENST00000683685.1:n.1836-63del | ||
| ENST00000683710.1:c.*929-63del | ENSP00000506785.1:n.*929-63del | |
| ENST00000683739.1:c.629-63del | ENSP00000507002.1:n.629-63del | |
| ENST00000683772.1:n.1006-63del | ||
| ENST00000684008.1:c.900-63del | ENSP00000507962.1:n.900-63del | |
| ENST00000684190.1:c.923-63del | ENSP00000507554.1:n.923-63del | |
| ENST00000684335.1:c.961+1076del | ENSP00000508112.1:n.961+1076del | |
| ENST00000262374.10:c.962-63del MANE Select | ENSP00000262374.5:n.962-63del | |
| ENST00000650085.1:n.1786-63del | ||
| ENST00000262374.9:c.962-63del | ENSP00000262374.4:n.962-63del | |
| ENST00000544428.1:c.629-63del | ENSP00000440019.1:n.629-63del | |
| ENST00000588623.5:c.629-63del | ENSP00000468118.1:n.629-63del | |
| ENST00000591822.5:c.*863-63del | ENSP00000467865.1:n.*863-63del | |
| NM_019109.4:c.962-63del | NP_061982.3:n.962-63del | |
| XM_011522565.1:c.629-63del | XP_011520867.1:n.629-63del | |
| XR_932882.1:n.1007-63del | ||
| NM_001330504.1:c.629-63del | NP_001317433.1:n.629-63del | |
| XM_017023457.2:c.923-63del | XP_016878946.1:n.923-63del | |
| XM_017023458.1:c.629-63del | XP_016878947.1:n.629-63del | |
| XR_932882.3:n.991-63del | ||
| NM_019109.5:c.962-63del MANE Select | NP_061982.3:n.962-63del | |
| NM_001330504.2:c.629-63del | NP_001317433.1:n.629-63del |