Linked Data
dbSNP Id:
rs1597446301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999807_15999835del , CM000679.2:g.15999807_15999835del | GRCh38 |
| NC_000017.10:g.15903121_15903149del , CM000679.1:g.15903121_15903149del | GRCh37 |
| NC_000017.9:g.15843846_15843874del | NCBI36 |
| NG_029806.1:g.5428_5456del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.9:c.-42_-14del | ENSP00000261647.5:n.-42_-14del | |
| ENST00000466729.5:c.24_52del | ||
| ENST00000475723.5:c.6_34del | ||
| NM_001271420.1:c.-500_-472del | NP_001258349.1:n.-500_-472del | |
| NM_017775.3:c.-42_-14del | NP_060245.3:n.-42_-14del | |
| XM_011523950.1:c.-42_-14del | XP_011522252.1:n.-42_-14del | |
| XM_017024801.2:c.-42_-14del | XP_016880290.2:n.-42_-14del | |
| XM_017024802.2:c.-42_-14del | XP_016880291.2:n.-42_-14del | |
| XM_024450814.1:c.-42_-14del | XP_024306582.1:n.-42_-14del |