Linked Data
dbSNP Id:
rs1253405675
gnomAD v2:
5-37874220-TAGA-T
gnomAD v3:
5-37874118-TAGA-T
gnomAD v4:
5-37874118-TAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37874123_37874125del , CM000667.2:g.37874123_37874125del | GRCh38 |
| NC_000005.9:g.37874225_37874227del , CM000667.1:g.37874225_37874227del | GRCh37 |
| NC_000005.8:g.37909982_37909984del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001278094.1:c.-800_-798del | NP_001265023.1:n.-800_-798del | |
| NR_103441.1:n.267_269del | ||
| NR_103442.1:n.2576_2578del | ||
| XM_011513926.1:c.-800_-798del | XP_011512228.1:n.-800_-798del | |
| NR_103441.2:n.267_269del | ||
| NR_145476.1:n.286_288del |