Linked Data
dbSNP Id:
rs539397286
ExAC:
2:203417391 ATT / A
gnomAD v2:
2-203417391-ATT-A
gnomAD v3:
2-202552668-ATT-A
gnomAD v4:
2-202552668-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202552678_202552679del , CM000664.2:g.202552678_202552679del | GRCh38 |
| NC_000002.11:g.203417401_203417402del , CM000664.1:g.203417401_203417402del | GRCh37 |
| NC_000002.10:g.203125646_203125647del | NCBI36 |
| NG_009363.1:g.181352_181353del , LRG_712:g.181352_181353del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.1414-38_1414-37del MANE Select | ENSP00000363708.4:n.1414-38_1414-37del | |
| ENST00000638587.1:c.1345-38_1345-37del | ENSP00000491062.1:n.1345-38_1345-37del | |
| ENST00000374574.2:c.1414-38_1414-37del | ENSP00000363702.2:n.1414-38_1414-37del | |
| ENST00000374580.8:c.1414-38_1414-37del | ENSP00000363708.4:n.1414-38_1414-37del | |
| NM_001204.6:c.1414-38_1414-37del , LRG_712t1:c.1414-38_1414-37del | NP_001195.2:n.1414-38_1414-37del | |
| XM_011511687.1:c.1414-38_1414-37del | XP_011509989.1:n.1414-38_1414-37del | |
| XM_011511688.1:c.1414-38_1414-37del | XP_011509990.1:n.1414-38_1414-37del | |
| NM_001204.7:c.1414-38_1414-37del MANE Select | NP_001195.2:n.1414-38_1414-37del |