Linked Data
dbSNP Id:
rs747660061
ExAC:
4:187130022 AG / A
gnomAD v2:
4-187130022-AG-A
gnomAD v4:
4-186208868-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186208869del , CM000666.2:g.186208869del | GRCh38 |
| NC_000004.11:g.187130023del , CM000666.1:g.187130023del | GRCh37 |
| NC_000004.10:g.187367017del | NCBI36 |
| NG_007965.1:g.22350del | |
| NG_012095.2:g.4891del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.1095del MANE Select | ENSP00000368079.4:p.Lys365AsnfsTer8 | |
| ENST00000378802.4:c.1095del | ENSP00000368079.4:p.Lys365AsnfsTer8 | |
| ENST00000502665.1:n.330del | ||
| ENST00000507209.5:n.5793del | ||
| ENST00000513354.5:n.185del | ||
| NM_207352.3:c.1095del | NP_997235.3:p.Lys365AsnfsTer8 | |
| XM_005262935.2:c.1095del | XP_005262992.1:p.Lys365AsnfsTer8 | |
| XM_006714184.2:c.699del | XP_006714247.1:p.Lys233AsnfsTer8 | |
| XM_005262935.4:c.1095del | XP_005262992.1:p.Lys365AsnfsTer8 | |
| XM_017008037.1:c.699del | XP_016863526.1:p.Lys233AsnfsTer8 | |
| NM_207352.4:c.1095del MANE Select | NP_997235.3:p.Lys365AsnfsTer8 |