Linked Data
dbSNP Id:
rs375176343
gnomAD v2:
17-4858190-CA-C
gnomAD v3:
17-4954895-CA-C
gnomAD v4:
17-4954895-CA-C
MyVariant Identifiers:
chr17:g.4858198del (hg19)
chr17:g.4858191del (hg19)
chr17:g.4954903del (hg38)
chr17:g.4954896del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4954914del , CM000679.2:g.4954914del | GRCh38 |
| NC_000017.10:g.4858209del , CM000679.1:g.4858209del | GRCh37 |
| NC_000017.9:g.4798955del | NCBI36 |
| NG_012063.2:g.13824del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000519602.6:c.445-161del MANE Select | ENSP00000430055.2:n.445-161del | |
| ENST00000323997.10:c.445-161del | ENSP00000324105.6:n.445-161del | |
| ENST00000518175.1:c.445-161del | ENSP00000431087.1:n.445-161del | |
| ENST00000519584.5:c.316-161del | ENSP00000430636.1:n.316-161del | |
| ENST00000519602.5:c.445-161del | ENSP00000430055.1:n.445-161del | |
| ENST00000520221.5:c.445-161del | ENSP00000467444.1:n.445-161del | |
| ENST00000521659.5:c.*391-161del | ENSP00000430554.1:n.*391-161del | |
| ENST00000522249.5:c.445-161del | ENSP00000428811.1:n.445-161del | |
| ENST00000522301.5:c.445-161del | ENSP00000465697.1:n.445-161del | |
| NM_001193503.1:c.316-161del | NP_001180432.1:n.316-161del | |
| NM_001976.4:c.445-161del | NP_001967.3:n.445-161del | |
| NM_053013.3:c.445-161del | NP_443739.3:n.445-161del | |
| XM_005256521.2:c.472-161del | XP_005256578.1:n.472-161del | |
| XM_011523729.1:c.445-161del | XP_011522031.1:n.445-161del | |
| XM_017024346.2:c.445-161del | XP_016879835.1:n.445-161del | |
| NM_001193503.2:c.316-161del | NP_001180432.1:n.316-161del | |
| NM_001374523.1:c.445-161del | NP_001361452.1:n.445-161del | |
| NM_001374524.1:c.472-161del | NP_001361453.1:n.472-161del | |
| NM_001976.5:c.445-161del | NP_001967.3:n.445-161del | |
| NM_053013.4:c.445-161del MANE Select | NP_443739.3:n.445-161del |