Linked Data
ClinVar Variation Id:
402292
dbSNP Id:
rs755002948
ExAC:
16:23646511 GTTTAAA / G
gnomAD v2:
16-23646511-GTTTAAA-G
gnomAD v4:
16-23635190-GTTTAAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23635194_23635199del , CM000678.2:g.23635194_23635199del | GRCh38 |
| NC_000016.9:g.23646515_23646520del , CM000678.1:g.23646515_23646520del | GRCh37 |
| NC_000016.8:g.23554016_23554021del | NCBI36 |
| NG_007406.1:g.11162_11167del , LRG_308:g.11162_11167del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.1356_1361del | ENSP00000460666.3:p.Leu453_Asn454del | |
| ENST00000565038.2:c.211+2654_211+2659del | ENSP00000459882.2:n.211+2654_211+2659del | |
| ENST00000566069.6:c.1350_1355del | ENSP00000459237.2:p.Leu451_Asn452del | |
| ENST00000697377.2:c.1356_1361del | ENSP00000513286.2:p.Leu453_Asn454del | |
| ENST00000697379.2:c.1356_1361del | ENSP00000513287.2:p.Leu453_Asn454del | |
| ENST00000561514.2:c.465_470del | ENSP00000460666.2:p.Leu156_Asn157del | |
| ENST00000697374.1:c.465_470del | ENSP00000513284.1:p.Leu156_Asn157del | |
| ENST00000697375.1:n.2697_2702del | ||
| ENST00000697376.1:c.465_470del | ENSP00000513285.1:p.Leu156_Asn157del | |
| ENST00000697377.1:c.465_470del | ENSP00000513286.1:p.Leu156_Asn157del | |
| ENST00000697378.1:n.1870_1875del | ||
| ENST00000697379.1:c.465_470del | ENSP00000513287.1:p.Leu156_Asn157del | |
| ENST00000697382.1:c.465_470del | ENSP00000513288.1:p.Leu156_Asn157del | |
| ENST00000697383.1:c.48+5914_49-5916del | ENSP00000513289.1:n.48+5914_49-5916del | |
| ENST00000697384.1:n.1504_1509del | ||
| ENST00000261584.9:c.1350_1355del MANE Select | ENSP00000261584.4:p.Leu451_Asn452del | |
| ENST00000261584.8:c.1350_1355del | ENSP00000261584.4:p.Leu451_Asn452del | |
| ENST00000565038.1:c.86+2654_86+2659del | ||
| ENST00000568219.5:c.465_470del | ENSP00000454703.2:p.Leu156_Asn157del | |
| NM_024675.3:c.1350_1355del , LRG_308t1:c.1350_1355del | NP_078951.2:p.Leu451_Asn452del | |
| XM_011545946.1:c.1356_1361del | XP_011544248.1:p.Leu453_Asn454del | |
| XM_011545947.1:c.1356_1361del | XP_011544249.1:p.Leu453_Asn454del | |
| XM_011545948.1:c.465_470del | XP_011544250.1:p.Leu156_Asn157del | |
| XR_950851.1:n.2146_2151del | ||
| XM_011545946.2:c.1356_1361del | XP_011544248.1:p.Leu453_Asn454del | |
| XM_011545947.2:c.1356_1361del | XP_011544249.1:p.Leu453_Asn454del | |
| XM_011545948.2:c.465_470del | XP_011544250.1:p.Leu156_Asn157del | |
| XM_017023671.1:c.1356_1361del | XP_016879160.1:p.Leu453_Asn454del | |
| XM_017023672.2:c.1350_1355del | XP_016879161.1:p.Leu451_Asn452del | |
| XM_017023673.2:c.1350_1355del | XP_016879162.1:p.Leu451_Asn452del | |
| NM_024675.4:c.1350_1355del MANE Select | NP_078951.2:p.Leu451_Asn452del |