Linked Data
ClinVar Variation Id:
39606
dbSNP Id:
rs397514545
gnomAD v2:
12-64202603-GACGTGATGACAGCTGGCAACTGTGGGAA-G
gnomAD v4:
12-63808823-GACGTGATGACAGCTGGCAACTGTGGGAA-G
PubMed:
PMID:23217329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.63808824_63808851del , CM000674.2:g.63808824_63808851del | GRCh38 |
| NC_000012.11:g.64202604_64202631del , CM000674.1:g.64202604_64202631del | GRCh37 |
| NC_000012.10:g.62488871_62488898del | NCBI36 |
| NG_033244.1:g.34022_34049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537373.6:c.*799_*826del | ENSP00000440280.2:n.*799_*826del | |
| ENST00000685296.1:c.*2607_*2634del | ENSP00000508796.1:n.*2607_*2634del | |
| ENST00000687087.1:c.*723_*750del | ENSP00000510657.1:n.*723_*750del | |
| ENST00000690060.1:c.*613_*640del | ENSP00000508435.1:n.*613_*640del | |
| ENST00000691840.1:n.1800_1827del | ||
| ENST00000692910.1:c.*1056_*1083del | ENSP00000509763.1:n.*1056_*1083del | |
| ENST00000693579.1:c.*1007_*1034del | ENSP00000510692.1:n.*1007_*1034del | |
| ENST00000261234.11:c.1064_1091del MANE Select | ENSP00000261234.6:p.Asp355ValfsTer? | |
| ENST00000261234.10:c.1064_1091del | ENSP00000261234.6:p.Asp355ValfsTer? | |
| ENST00000433461.2:n.1850_1877del | ||
| ENST00000537373.5:c.284_311del | ENSP00000440280.1:p.Asp95ValfsTer? | |
| ENST00000543342.5:c.*865_*892del | ENSP00000440845.1:n.*865_*892del | |
| ENST00000623171.1:n.3874_3901del | ||
| NM_001278237.1:c.284_311del | NP_001265166.1:p.Asp95ValfsTer? | |
| NM_014254.2:c.1064_1091del | NP_055069.1:p.Asp355ValfsTer? | |
| XM_005268562.2:c.755_782del | XP_005268619.1:p.Asp252ValfsTer? | |
| XM_005268563.2:c.755_782del | XP_005268620.1:p.Asp252ValfsTer? | |
| XM_005268562.3:c.755_782del | XP_005268619.1:p.Asp252ValfsTer? | |
| XM_005268563.3:c.755_782del | XP_005268620.1:p.Asp252ValfsTer? | |
| XM_017018686.1:c.284_311del | XP_016874175.1:p.Asp95ValfsTer? | |
| XM_017018687.1:c.284_311del | XP_016874176.1:p.Asp95ValfsTer? | |
| XR_001748549.1:n.1238_1265del | ||
| NM_014254.3:c.1064_1091del MANE Select | NP_055069.1:p.Asp355ValfsTer? | |
| NM_001278237.2:c.284_311del | NP_001265166.1:p.Asp95ValfsTer? |