Linked Data
dbSNP Id:
rs1300854060
gnomAD v2:
17-42990912-CTT-C
gnomAD v3:
17-44913544-CTT-C
gnomAD v4:
17-44913544-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44913545_44913546del , CM000679.2:g.44913545_44913546del | GRCh38 |
| NC_000017.10:g.42990913_42990914del , CM000679.1:g.42990913_42990914del | GRCh37 |
| NC_000017.9:g.40346439_40346440del | NCBI36 |
| NG_008401.1:g.7001_7002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.619-116_619-115del | ENSP00000253408.5:n.619-116_619-115del | |
| ENST00000435360.8:c.619-116_619-115del | ENSP00000403962.1:n.619-116_619-115del | |
| ENST00000253408.10:c.619-116_619-115del | ENSP00000253408.5:n.619-116_619-115del | |
| ENST00000435360.7:c.619-116_619-115del | ENSP00000403962.1:n.619-116_619-115del | |
| ENST00000586127.6:n.1148-116_1148-115del | ||
| ENST00000586793.6:c.619-116_619-115del | ENSP00000468500.2:n.619-116_619-115del | |
| ENST00000587997.6:n.94+57_94+58del | ||
| ENST00000588735.3:c.619-116_619-115del MANE Select | ENSP00000466598.2:n.619-116_619-115del | |
| ENST00000591327.2:n.1773-116_1773-115del | ||
| ENST00000592320.6:c.618+182_618+183del | ENSP00000465320.1:n.618+182_618+183del | |
| ENST00000638281.1:c.619-116_619-115del | ENSP00000491088.1:n.619-116_619-115del | |
| ENST00000638618.1:c.274-116_274-115del | ENSP00000492832.1:n.274-116_274-115del | |
| ENST00000639277.1:c.619-116_619-115del | ENSP00000492432.1:n.619-116_619-115del | |
| ENST00000640552.1:n.633-116_633-115del | ||
| ENST00000253408.9:c.619-116_619-115del | ENSP00000253408.4:n.619-116_619-115del | |
| ENST00000376990.8:c.*18-116_*18-115del | ENSP00000366189.4:n.*18-116_*18-115del | |
| ENST00000435360.6:c.619-116_619-115del | ENSP00000403962.1:n.619-116_619-115del | |
| ENST00000585728.5:c.*263-116_*263-115del | ENSP00000465208.1:n.*263-116_*263-115del | |
| ENST00000586127.5:c.-43-116_-43-115del | ENSP00000464795.1:n.-43-116_-43-115del | |
| ENST00000586793.5:c.619-116_619-115del | ENSP00000468500.1:n.619-116_619-115del | |
| ENST00000587997.5:c.94+57_94+58del | ||
| ENST00000588316.1:c.523-116_523-115del | ENSP00000465629.1:n.523-116_523-115del | |
| ENST00000588735.1:c.82+1859_82+1860del | ENSP00000466598.1:n.82+1859_82+1860del | |
| ENST00000588957.5:c.-114-116_-114-115del | ENSP00000465565.1:n.-114-116_-114-115del | |
| ENST00000590922.1:n.153_154del | ||
| ENST00000591327.1:n.572-116_572-115del | ||
| ENST00000592320.5:c.618+182_618+183del | ENSP00000465320.1:n.618+182_618+183del | |
| NM_001131019.2:c.619-116_619-115del | NP_001124491.1:n.619-116_619-115del | |
| NM_001242376.1:c.619-116_619-115del | NP_001229305.1:n.619-116_619-115del | |
| NM_002055.4:c.619-116_619-115del | NP_002046.1:n.619-116_619-115del | |
| NM_001363846.1:c.619-116_619-115del | NP_001350775.1:n.619-116_619-115del | |
| XM_024450690.1:c.823-116_823-115del | XP_024306458.1:n.823-116_823-115del | |
| XM_024450691.1:c.823-116_823-115del | XP_024306459.1:n.823-116_823-115del | |
| XM_024450692.1:c.823-116_823-115del | XP_024306460.1:n.823-116_823-115del | |
| XM_024450693.1:c.823-116_823-115del | XP_024306461.1:n.823-116_823-115del | |
| NM_002055.5:c.619-116_619-115del MANE Select | NP_002046.1:n.619-116_619-115del | |
| NM_001131019.3:c.619-116_619-115del | NP_001124491.1:n.619-116_619-115del | |
| NM_001242376.2:c.619-116_619-115del | NP_001229305.1:n.619-116_619-115del | |
| NM_001242376.3:c.619-116_619-115del | NP_001229305.1:n.619-116_619-115del | |
| NM_001363846.2:c.619-116_619-115del | NP_001350775.1:n.619-116_619-115del |