Linked Data
ClinVar Variation Id:
126739
dbSNP Id:
rs515726117
ExAC:
16:23614978 AC / A
gnomAD v2:
16-23614978-AC-A
gnomAD v3:
16-23603657-AC-A
gnomAD v4:
16-23603657-AC-A
MyVariant Identifiers:
chr16:g.23614979del (hg19)
chr16:g.23603659del (hg38)
chr16:g.23603658del (hg38)
PubMed:
PMID:23935836
PMID:24136930
PMID:24549055
PMID:24870022
PMID:25099575
PMID:25452441
PMID:26283626
PMID:28454591
ERepo:
CA167019/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23603659del , CM000678.2:g.23603659del | GRCh38 |
| NC_000016.9:g.23614980del , CM000678.1:g.23614980del | GRCh37 |
| NC_000016.8:g.23522481del | NCBI36 |
| NG_007406.1:g.42700del , LRG_308:g.42700del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3368del | ENSP00000460666.3:p.Gly1123ValfsTer3 | |
| ENST00000565038.2:c.*847del | ENSP00000459882.2:n.*847del | |
| ENST00000566069.6:c.3213del | ENSP00000459237.2:p.Arg1071SerfsTer? | |
| ENST00000697377.2:c.3206del | ENSP00000513286.2:p.Gly1069ValfsTer3 | |
| ENST00000697379.2:c.3368del | ENSP00000513287.2:p.Gly1123ValfsTer3 | |
| ENST00000561514.2:c.2477del | ENSP00000460666.2:p.Gly826ValfsTer3 | |
| ENST00000697374.1:c.2477del | ENSP00000513284.1:p.Gly826ValfsTer3 | |
| ENST00000697375.1:n.4709del | ||
| ENST00000697376.1:c.2328del | ENSP00000513285.1:p.Arg776SerfsTer? | |
| ENST00000697377.1:c.2315del | ENSP00000513286.1:p.Gly772ValfsTer3 | |
| ENST00000697378.1:n.3882del | ||
| ENST00000697379.1:c.2477del | ENSP00000513287.1:p.Gly826ValfsTer3 | |
| ENST00000697380.1:n.2566del | ||
| ENST00000697381.1:n.2057del | ||
| ENST00000697382.1:c.*139del | ENSP00000513288.1:n.*139del | |
| ENST00000697383.1:c.896del | ENSP00000513289.1:p.Gly299ValfsTer3 | |
| ENST00000261584.9:c.3362del MANE Select | ENSP00000261584.4:p.Gly1121ValfsTer3 | |
| ENST00000261584.8:c.3362del | ENSP00000261584.4:p.Gly1121ValfsTer3 | |
| ENST00000566069.5:c.128del | ||
| ENST00000568219.5:c.2477del | ENSP00000454703.2:p.Gly826ValfsTer3 | |
| NM_024675.3:c.3362del , LRG_308t1:c.3362del | NP_078951.2:p.Gly1121ValfsTer3 | |
| XM_011545946.1:c.3368del | XP_011544248.1:p.Gly1123ValfsTer3 | |
| XM_011545947.1:c.3219del | XP_011544249.1:p.Arg1073SerfsTer? | |
| XM_011545948.1:c.2477del | XP_011544250.1:p.Gly826ValfsTer3 | |
| XR_950851.1:n.4070del | ||
| XM_011545946.2:c.3368del | XP_011544248.1:p.Gly1123ValfsTer3 | |
| XM_011545947.2:c.3219del | XP_011544249.1:p.Arg1073SerfsTer? | |
| XM_011545948.2:c.2477del | XP_011544250.1:p.Gly826ValfsTer3 | |
| XM_017023671.1:c.3131del | XP_016879160.1:p.Gly1044ValfsTer3 | |
| XM_017023672.2:c.3125del | XP_016879161.1:p.Gly1042ValfsTer3 | |
| XM_017023673.2:c.3213del | XP_016879162.1:p.Arg1071SerfsTer? | |
| NM_024675.4:c.3362del MANE Select | NP_078951.2:p.Gly1121ValfsTer3 |