Linked Data
dbSNP Id:
rs1388776490
gnomAD v2:
17-4858713-CT-C
gnomAD v3:
17-4955418-CT-C
gnomAD v4:
17-4955418-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955419del , CM000679.2:g.4955419del | GRCh38 |
| NC_000017.10:g.4858714del , CM000679.1:g.4858714del | GRCh37 |
| NC_000017.9:g.4799460del | NCBI36 |
| NG_012063.2:g.14329del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.680del MANE Select | ENSP00000430055.2:p.Leu227ArgfsTer15 | |
| ENST00000323997.10:c.680del | ENSP00000324105.6:p.Leu227ArgfsTer15 | |
| ENST00000518175.1:c.680del | ENSP00000431087.1:p.Leu227ArgfsTer15 | |
| ENST00000519584.5:c.551del | ENSP00000430636.1:p.Leu184ArgfsTer15 | |
| ENST00000519602.5:c.680del | ENSP00000430055.1:p.Leu227ArgfsTer15 | |
| ENST00000521659.5:c.*626del | ENSP00000430554.1:n.*626del | |
| NM_001193503.1:c.551del | NP_001180432.1:p.Leu184ArgfsTer15 | |
| NM_001976.4:c.680del | NP_001967.3:p.Leu227ArgfsTer15 | |
| NM_053013.3:c.680del | NP_443739.3:p.Leu227ArgfsTer15 | |
| XM_005256521.2:c.707del | XP_005256578.1:p.Leu236ArgfsTer15 | |
| XM_011523729.1:c.680del | XP_011522031.1:p.Leu227ArgfsTer15 | |
| XM_017024346.2:c.680del | XP_016879835.1:p.Leu227ArgfsTer15 | |
| NM_001193503.2:c.551del | NP_001180432.1:p.Leu184ArgfsTer15 | |
| NM_001374523.1:c.680del | NP_001361452.1:p.Leu227ArgfsTer15 | |
| NM_001374524.1:c.707del | NP_001361453.1:p.Leu236ArgfsTer15 | |
| NM_001976.5:c.680del | NP_001967.3:p.Leu227ArgfsTer15 | |
| NM_053013.4:c.680del MANE Select | NP_443739.3:p.Leu227ArgfsTer15 |