Linked Data
dbSNP Id:
rs1173018379
gnomAD v2:
1-169676596-AGGAGGTC-A
gnomAD v4:
1-169707455-AGGAGGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169707456_169707462del , CM000663.2:g.169707456_169707462del | GRCh38 |
| NC_000001.10:g.169676597_169676603del , CM000663.1:g.169676597_169676603del | GRCh37 |
| NC_000001.9:g.167943221_167943227del | NCBI36 |
| NG_016132.1:g.9241_9247del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236147.6:c.473-13_473-7del (SELL) MANE Select | ENSP00000236147.5:n.473-13_473-7del | |
| ENST00000650983.1:c.512-13_512-7del (SELL) | ENSP00000498227.1:n.512-13_512-7del | |
| ENST00000236147.4:c.512-13_512-7del (SELL) | ENSP00000236147.4:n.512-13_512-7del | |
| ENST00000463108.5:n.673-13_673-7del (SELL) | ||
| ENST00000466340.1:n.485-13_485-7del (SELL) | ||
| ENST00000479657.5:n.225-13_225-7del (SELL) | ||
| ENST00000498289.5:n.851+23524_851+23530del (FIRRM) | ||
| NM_000655.4:c.512-13_512-7del (SELL) | NP_000646.2:n.512-13_512-7del | |
| NR_029467.1:n.441-13_441-7del (SELL) | ||
| NM_000655.5:c.473-13_473-7del (SELL) MANE Select | NP_000646.3:n.473-13_473-7del | |
| NR_029467.2:n.442-13_442-7del (SELL) |