Linked Data
dbSNP Id:
rs1566381500
gnomAD v2:
13-95713615-CA-C
gnomAD v3:
13-95061361-CA-C
gnomAD v4:
13-95061361-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.95061364del , CM000675.2:g.95061364del | GRCh38 |
| NC_000013.10:g.95713618del , CM000675.1:g.95713618del | GRCh37 |
| NC_000013.9:g.94511619del | NCBI36 |
| NG_050651.1:g.245085del | |
| NG_050651.2:g.245085del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000643051.1:c.*991+1342del | ENSP00000495513.1:n.*991+1342del | |
| ENST00000643842.1:c.*3412+1342del | ENSP00000493861.1:n.*3412+1342del | |
| ENST00000645237.2:c.3366+1342del MANE Select | ENSP00000494609.1:n.3366+1342del | |
| ENST00000646439.1:c.3225+1342del | ENSP00000494751.1:n.3225+1342del | |
| ENST00000376887.8:c.3366+1342del | ENSP00000366084.4:n.3366+1342del | |
| NM_001301829.1:c.3225+1342del | NP_001288758.1:n.3225+1342del | |
| NM_005845.4:c.3366+1342del | NP_005836.2:n.3366+1342del | |
| XM_005254025.2:c.3237+1342del | XP_005254082.1:n.3237+1342del | |
| XM_006719914.1:c.3276+1342del | XP_006719977.1:n.3276+1342del | |
| XM_011521047.1:c.2817+1342del | XP_011519349.1:n.2817+1342del | |
| XM_017020319.1:c.3237+1342del | XP_016875808.1:n.3237+1342del | |
| XM_017020321.1:c.1851+1342del | XP_016875810.1:n.1851+1342del | |
| NM_001301829.2:c.3225+1342del | NP_001288758.1:n.3225+1342del | |
| NM_005845.5:c.3366+1342del MANE Select | NP_005836.2:n.3366+1342del |