Linked Data
ClinVar Variation Id:
373048
dbSNP Id:
rs1057518170
gnomAD v4:
1-151424958-CAT-C
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.151424959_151424960del , CM000663.2:g.151424959_151424960del | GRCh38 |
| NC_000001.10:g.151397435_151397436del , CM000663.1:g.151397435_151397436del | GRCh37 |
| NC_000001.9:g.149664059_149664060del | NCBI36 |
| NG_046601.1:g.39506_39507del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710270.1:c.1228_1229del | ENSP00000518163.1:p.Met410ValfsTer9 | |
| ENST00000392723.6:c.1021_1022del | ENSP00000376484.1:p.Met341ValfsTer9 | |
| ENST00000439756.2:c.1180_1181del | ENSP00000390156.2:p.Met394ValfsTer9 | |
| ENST00000703168.1:c.1201_1202del | ENSP00000515214.1:p.Met401ValfsTer9 | |
| ENST00000703169.1:c.1153_1154del | ENSP00000515215.1:p.Met385ValfsTer9 | |
| ENST00000271715.7:c.1180_1181del MANE Select | ENSP00000271715.2:p.Met394ValfsTer9 | |
| ENST00000271715.6:c.1180_1181del | ENSP00000271715.2:p.Met394ValfsTer9 | |
| ENST00000358476.7:n.1049_1050del | ||
| ENST00000368863.6:c.895_896del | ENSP00000357856.2:p.Met299ValfsTer9 | |
| ENST00000392723.5:c.1021_1022del | ENSP00000376484.1:p.Met341ValfsTer9 | |
| ENST00000409503.5:c.1153_1154del | ENSP00000386836.1:p.Met385ValfsTer9 | |
| ENST00000441516.1:c.159-674_159-673del | ||
| ENST00000491586.5:c.1021_1022del | ENSP00000418408.1:p.Met341ValfsTer9 | |
| ENST00000495253.1:n.335_336del | ||
| ENST00000531094.5:c.994_995del | ENSP00000431259.1:p.Met332ValfsTer9 | |
| NM_001194937.1:c.1153_1154del | NP_001181866.1:p.Met385ValfsTer9 | |
| NM_001194938.1:c.994_995del | NP_001181867.1:p.Met332ValfsTer9 | |
| NM_015100.3:c.1180_1181del | NP_055915.2:p.Met394ValfsTer9 | |
| NM_145796.3:c.895_896del | NP_665739.3:p.Met299ValfsTer9 | |
| NM_207171.2:c.1021_1022del | NP_997054.1:p.Met341ValfsTer9 | |
| XM_005244999.1:c.1180_1181del | XP_005245056.1:p.Met394ValfsTer9 | |
| XM_005245000.3:c.1180_1181del | XP_005245057.1:p.Met394ValfsTer9 | |
| XM_005245001.1:c.1180_1181del | XP_005245058.1:p.Met394ValfsTer9 | |
| XM_005245005.1:c.1021_1022del | XP_005245062.1:p.Met341ValfsTer9 | |
| XM_005245006.3:c.1021_1022del | XP_005245063.1:p.Met341ValfsTer9 | |
| XM_011509330.1:c.1072_1073del | XP_011507632.1:p.Met358ValfsTer9 | |
| XM_011509331.1:c.823_824del | XP_011507633.1:p.Met275ValfsTer9 | |
| XR_921760.1:n.1181_1182del | ||
| XM_005244999.3:c.1180_1181del | XP_005245056.1:p.Met394ValfsTer9 | |
| XM_005245000.4:c.1180_1181del | XP_005245057.1:p.Met394ValfsTer9 | |
| XM_005245001.2:c.1180_1181del | XP_005245058.1:p.Met394ValfsTer9 | |
| XM_005245005.2:c.1021_1022del | XP_005245062.1:p.Met341ValfsTer9 | |
| XM_005245006.5:c.1021_1022del | XP_005245063.1:p.Met341ValfsTer9 | |
| XM_017000744.1:c.1201_1202del | XP_016856233.1:p.Met401ValfsTer9 | |
| XM_017000745.2:c.1153_1154del | XP_016856234.1:p.Met385ValfsTer9 | |
| XM_017000746.1:c.1153_1154del | XP_016856235.1:p.Met385ValfsTer9 | |
| XM_017000748.1:c.1021_1022del | XP_016856237.1:p.Met341ValfsTer9 | |
| XM_017000749.1:c.1021_1022del | XP_016856238.1:p.Met341ValfsTer9 | |
| XM_024454305.1:c.1201_1202del | XP_024310073.1:p.Met401ValfsTer9 | |
| XM_024454306.1:c.-15-674_-15-673del | XP_024310074.1:n.-15-674_-15-673del | |
| XR_002959801.1:n.1208_1209del | ||
| NM_015100.4:c.1180_1181del MANE Select | NP_055915.2:p.Met394ValfsTer9 | |
| NM_001194937.2:c.1153_1154del | NP_001181866.1:p.Met385ValfsTer9 | |
| NM_001194938.2:c.994_995del | NP_001181867.1:p.Met332ValfsTer9 | |
| NM_145796.4:c.895_896del | NP_665739.3:p.Met299ValfsTer9 |