Linked Data
ClinVar Variation Id:
2199896
ClinVar RCV Id:
RCV002625196
dbSNP Id:
rs777726418
ExAC:
17:4858602 GA / G
gnomAD v2:
17-4858602-GA-G
gnomAD v3:
17-4955307-GA-G
gnomAD v4:
17-4955307-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4955308del , CM000679.2:g.4955308del | GRCh38 |
| NC_000017.10:g.4858603del , CM000679.1:g.4858603del | GRCh37 |
| NC_000017.9:g.4799349del | NCBI36 |
| NG_012063.2:g.14218del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.667+11del MANE Select | ENSP00000430055.2:n.667+11del | |
| ENST00000323997.10:c.667+11del | ENSP00000324105.6:n.667+11del | |
| ENST00000518175.1:c.667+11del | ENSP00000431087.1:n.667+11del | |
| ENST00000519584.5:c.538+11del | ENSP00000430636.1:n.538+11del | |
| ENST00000519602.5:c.667+11del | ENSP00000430055.1:n.667+11del | |
| ENST00000521659.5:c.*613+11del | ENSP00000430554.1:n.*613+11del | |
| NM_001193503.1:c.538+11del | NP_001180432.1:n.538+11del | |
| NM_001976.4:c.667+11del | NP_001967.3:n.667+11del | |
| NM_053013.3:c.667+11del | NP_443739.3:n.667+11del | |
| XM_005256521.2:c.694+11del | XP_005256578.1:n.694+11del | |
| XM_011523729.1:c.667+11del | XP_011522031.1:n.667+11del | |
| XM_017024346.2:c.667+11del | XP_016879835.1:n.667+11del | |
| NM_001193503.2:c.538+11del | NP_001180432.1:n.538+11del | |
| NM_001374523.1:c.667+11del | NP_001361452.1:n.667+11del | |
| NM_001374524.1:c.694+11del | NP_001361453.1:n.694+11del | |
| NM_001976.5:c.667+11del | NP_001967.3:n.667+11del | |
| NM_053013.4:c.667+11del MANE Select | NP_443739.3:n.667+11del |