Linked Data
dbSNP Id:
rs1266013883
gnomAD v2:
5-73985109-GCTAAAATCCTT-G
gnomAD v3:
5-74689284-GCTAAAATCCTT-G
gnomAD v4:
5-74689284-GCTAAAATCCTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689292_74689302del , CM000667.2:g.74689292_74689302del | GRCh38 |
| NC_000005.9:g.73985117_73985127del , CM000667.1:g.73985117_73985127del | GRCh37 |
| NC_000005.8:g.74020873_74020883del | NCBI36 |
| NG_009770.1:g.9149_9159del | |
| NG_009770.2:g.54270_54280del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.300-36_300-26del MANE Select | ENSP00000261416.7:n.300-36_300-26del | |
| ENST00000261416.11:c.300-36_300-26del | ENSP00000261416.7:n.300-36_300-26del | |
| ENST00000511181.5:c.-376-36_-376-26del | ENSP00000426285.1:n.-376-36_-376-26del | |
| ENST00000513079.5:n.365-36_365-26del | ||
| ENST00000515528.1:n.355-36_355-26del | ||
| NM_000521.3:c.300-36_300-26del | NP_000512.1:n.300-36_300-26del | |
| NM_001292004.1:c.-376-36_-376-26del | NP_001278933.1:n.-376-36_-376-26del | |
| NM_000521.4:c.300-36_300-26del MANE Select | NP_000512.2:n.300-36_300-26del | |
| NM_001292004.2:c.-376-36_-376-26del | NP_001278933.1:n.-376-36_-376-26del |