Linked Data
dbSNP Id:
rs1682507413
gnomAD v3:
2-38075094-CATTCAGCACCACTATGGG-C
gnomAD v4:
2-38075094-CATTCAGCACCACTATGGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075095_38075112del , CM000664.2:g.38075095_38075112del | GRCh38 |
| NC_000002.11:g.38302238_38302255del , CM000664.1:g.38302238_38302255del | GRCh37 |
| NC_000002.10:g.38155742_38155759del | NCBI36 |
| NG_008386.2:g.5990_6007del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.277_294del | ENSP00000478839.2:p.Pro93_Asn98del | |
| ENST00000610745.5:c.277_294del MANE Select | ENSP00000478561.1:p.Pro93_Asn98del | |
| ENST00000490576.1:c.277_294del | ENSP00000478839.1:p.Pro93_Asn98del | |
| ENST00000494864.1:c.-70-3802_-70-3785del | ENSP00000479876.1:n.-70-3802_-70-3785del | |
| ENST00000610745.4:c.277_294del | ENSP00000478561.1:p.Pro93_Asn98del | |
| ENST00000613082.1:n.375+668_375+685del | ||
| ENST00000614273.1:c.277_294del | ENSP00000483678.1:p.Pro93_Asn98del | |
| NM_000104.3:c.277_294del | NP_000095.2:p.Pro93_Asn98del | |
| NM_000104.4:c.277_294del MANE Select | NP_000095.2:p.Pro93_Asn98del |