Linked Data
dbSNP Id:
rs1279770537
gnomAD v2:
7-19156653-CGCCGCCGCTGCTGCT-C
gnomAD v4:
7-19117030-CGCCGCCGCTGCTGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117039_19117053del , CM000669.2:g.19117039_19117053del | GRCh38 |
| NC_000007.13:g.19156662_19156676del , CM000669.1:g.19156662_19156676del | GRCh37 |
| NC_000007.12:g.19123187_19123201del | NCBI36 |
| NG_008114.1:g.5628_5642del | |
| NG_008114.2:g.5628_5642del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.277_291del MANE Select | ENSP00000242261.5:p.Ser93_Gly97del | |
| ENST00000242261.5:c.277_291del | ENSP00000242261.5:p.Ser93_Gly97del | |
| ENST00000354571.5:c.74_88del | ||
| NM_000474.3:c.277_291del | NP_000465.1:p.Ser93_Gly97del | |
| XM_011515496.1:c.277_291del | XP_011513798.1:p.Ser93_Gly97del | |
| NR_149001.1:n.628_642del | ||
| NM_000474.4:c.277_291del MANE Select | NP_000465.1:p.Ser93_Gly97del | |
| NR_149001.2:n.592_606del |