Linked Data
dbSNP Id:
rs1398366621
gnomAD v2:
16-1412946-CACTCGCCACCTGTGGGTCCAGGTGAGG-C
gnomAD v3:
16-1362945-CACTCGCCACCTGTGGGTCCAGGTGAGG-C
gnomAD v4:
16-1362945-CACTCGCCACCTGTGGGTCCAGGTGAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362949_1362975del , CM000678.2:g.1362949_1362975del | GRCh38 |
| NC_000016.9:g.1412950_1412976del , CM000678.1:g.1412950_1412976del | GRCh37 |
| NC_000016.8:g.1352951_1352977del | NCBI36 |
| NG_016985.1:g.16051_16077del | |
| NG_033129.1:g.56733_56759del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.922+43_923-22del | ||
| ENST00000529110.2:c.907+43_908-22del | ENSP00000435349.2:n.907+43_908-22del | |
| ENST00000529957.6:n.881+43_882-22del | ||
| ENST00000683366.1:c.*555+43_*556-22del | ENSP00000507283.1:n.*555+43_*556-22del | |
| ENST00000683887.1:c.871+43_872-22del | ENSP00000506886.1:n.871+43_872-22del | |
| ENST00000684100.1:n.817+43_818-22del | ||
| ENST00000684126.1:n.957+43_958-22del | ||
| ENST00000684688.1:n.1448+43_1449-22del | ||
| ENST00000204679.9:c.823+43_824-22del MANE Select | ENSP00000204679.4:n.823+43_824-22del | |
| ENST00000204679.8:c.823+43_824-22del | ENSP00000204679.4:n.823+43_824-22del | |
| ENST00000527076.1:n.2046+43_2047-22del | ||
| ENST00000527168.5:n.990+43_991-22del | ||
| NM_032520.4:c.823+43_824-22del | NP_115909.1:n.823+43_824-22del | |
| XM_017023782.1:c.871+43_872-22del | XP_016879271.1:n.871+43_872-22del | |
| XM_017023783.1:c.463+43_464-22del | XP_016879272.1:n.463+43_464-22del | |
| NM_032520.5:c.823+43_824-22del MANE Select | NP_115909.1:n.823+43_824-22del |