Linked Data
dbSNP Id:
rs1258493124
gnomAD v2:
2-38302622-GT-G
gnomAD v3:
2-38075479-GT-G
gnomAD v4:
2-38075479-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075480del , CM000664.2:g.38075480del | GRCh38 |
| NC_000002.11:g.38302623del , CM000664.1:g.38302623del | GRCh37 |
| NC_000002.10:g.38156127del | NCBI36 |
| NG_008386.2:g.5622del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.-1-91del | ENSP00000478839.2:n.-1-91del | |
| ENST00000610745.5:c.-1-91del MANE Select | ENSP00000478561.1:n.-1-91del | |
| ENST00000490576.1:c.-1-91del | ENSP00000478839.1:n.-1-91del | |
| ENST00000494864.1:c.-70-4170del | ENSP00000479876.1:n.-70-4170del | |
| ENST00000610745.4:c.-1-91del | ENSP00000478561.1:n.-1-91del | |
| ENST00000613082.1:n.375+300del | ||
| ENST00000614273.1:c.-1-91del | ENSP00000483678.1:n.-1-91del | |
| NM_000104.3:c.-1-91del | NP_000095.2:n.-1-91del | |
| XM_011533236.1:c.94del | XP_011531538.1:p.Cys32AlafsTer9 | |
| NM_000104.4:c.-1-91del MANE Select | NP_000095.2:n.-1-91del |