Linked Data
ClinVar Variation Id:
371242
ClinVar RCV Id:
RCV000409207
dbSNP Id:
rs1057517119
gnomAD v4:
6-73610537-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73610539del , CM000668.2:g.73610539del | GRCh38 |
| NC_000006.11:g.74320262del , CM000668.1:g.74320262del | GRCh37 |
| NC_000006.10:g.74376983del | NCBI36 |
| NG_008272.1:g.48477del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.1121del MANE Select | ENSP00000348019.5:p.Gly374AspfsTer7 | |
| ENST00000355773.5:c.1121del | ENSP00000348019.5:p.Gly374AspfsTer7 | |
| NM_012434.4:c.1121del | NP_036566.1:p.Gly374AspfsTer7 | |
| XM_005248710.2:c.1070del | XP_005248767.1:p.Gly357AspfsTer7 | |
| XM_005248711.1:c.923del | XP_005248768.1:p.Gly308AspfsTer7 | |
| XM_011535750.1:c.1111+4777del | XP_011534052.1:n.1111+4777del | |
| NM_012434.5:c.1121del MANE Select | NP_036566.1:p.Gly374AspfsTer7 | |
| NM_001382629.1:c.890del | NP_001369558.1:p.Gly297AspfsTer7 | |
| NM_001382630.1:c.1121del | NP_001369559.1:p.Gly374AspfsTer7 | |
| NM_001382631.1:c.1142del | NP_001369560.1:p.Gly381AspfsTer7 | |
| NM_001382632.1:c.1034del | NP_001369561.1:p.Gly345AspfsTer7 | |
| NM_001382633.1:c.1121del | NP_001369562.1:p.Gly374AspfsTer7 | |
| NM_001382634.1:c.962del | NP_001369563.1:p.Gly321AspfsTer7 | |
| NM_001382635.1:c.1118del | NP_001369564.1:p.Gly373AspfsTer7 | |
| NM_001382636.1:c.803del | NP_001369565.1:p.Gly268AspfsTer7 |