UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
56256
ClinVar RCV Id:
RCV000049668
dbSNP Id:
rs386833707
gnomAD v4:
16-28477560-GC-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28477564del , CM000678.2:g.28477564del | GRCh38 |
| NC_000016.9:g.28488885del , CM000678.1:g.28488885del | GRCh37 |
| NC_000016.8:g.28396386del | NCBI36 |
| NG_008654.2:g.19742del , LRG_689:g.19742del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.1200del | ENSP00000329171.9:p.Leu401SerfsTer? | |
| ENST00000355477.10:c.1128del | ENSP00000347660.7:p.Leu377SerfsTer? | |
| ENST00000357857.14:c.1110del | ENSP00000350523.9:p.Leu371SerfsTer? | |
| ENST00000359984.12:c.1272del | ENSP00000353073.9:p.Leu425SerfsTer? | |
| ENST00000360019.8:c.1200del | ENSP00000353116.3:p.Leu401SerfsTer? | |
| ENST00000395653.9:c.813del | ENSP00000379014.5:p.Leu272SerfsTer? | |
| ENST00000561689.6:n.1685del | ||
| ENST00000564091.6:c.612del | ENSP00000454466.2:p.Leu205SerfsTer? | |
| ENST00000565316.6:c.1221del | ENSP00000456117.1:p.Leu408SerfsTer? | |
| ENST00000567963.6:c.1110del | ENSP00000455387.2:p.Leu371SerfsTer? | |
| ENST00000568076.6:n.1701del | ||
| ENST00000568422.6:c.*509del | ENSP00000455549.2:n.*509del | |
| ENST00000568452.6:n.1503del | ||
| ENST00000569430.7:c.1272del | ENSP00000454229.1:p.Leu425SerfsTer? | |
| ENST00000628023.3:c.*568del | ENSP00000486178.1:n.*568del | |
| ENST00000635861.1:c.*924del | ENSP00000490034.1:n.*924del | |
| ENST00000635887.1:c.1272del | ENSP00000490709.1:p.Leu425SerfsTer? | |
| ENST00000635958.1:n.1679del | ||
| ENST00000636017.1:c.*796del | ENSP00000490538.1:n.*796del | |
| ENST00000636078.1:n.1394del | ||
| ENST00000636147.2:c.1272del MANE Select | ENSP00000490105.1:p.Leu425SerfsTer? | |
| ENST00000636172.1:c.*796del | ENSP00000490505.1:n.*796del | |
| ENST00000636228.1:c.966del | ENSP00000489627.1:p.Leu323SerfsTer? | |
| ENST00000636351.1:n.1166del | ||
| ENST00000636503.1:c.*302del | ENSP00000489824.1:n.*302del | |
| ENST00000636766.1:c.1272del | ENSP00000489841.1:p.Leu425SerfsTer? | |
| ENST00000636839.1:n.1768del | ||
| ENST00000636853.1:n.2285del | ||
| ENST00000636866.1:c.*67del | ENSP00000490880.1:n.*67del | |
| ENST00000636907.1:n.1423del | ||
| ENST00000636977.1:n.2764del | ||
| ENST00000637050.1:n.1661del | ||
| ENST00000637100.1:c.1006-3299del | ENSP00000490394.1:n.1006-3299del | |
| ENST00000637107.1:c.*796del | ENSP00000490248.1:n.*796del | |
| ENST00000637184.1:c.*302del | ENSP00000489952.1:n.*302del | |
| ENST00000637299.1:c.*1081del | ENSP00000489823.1:n.*1081del | |
| ENST00000637376.1:c.*302del | ENSP00000490758.1:n.*302del | |
| ENST00000637378.1:c.228+4544del | ENSP00000490831.1:n.228+4544del | |
| ENST00000637578.1:c.*796del | ENSP00000490206.1:n.*796del | |
| ENST00000637699.1:c.1183del | ENSP00000490049.1:n.1183del | |
| ENST00000637745.1:c.709del | ||
| ENST00000637871.1:c.*970del | ENSP00000490670.1:n.*970del | |
| ENST00000638036.1:c.434del | ||
| ENST00000333496.13:c.1200del | ENSP00000329171.9:p.Leu401SerfsTer? | |
| ENST00000355477.9:c.*509del | ENSP00000347660.6:n.*509del | |
| ENST00000357806.11:c.975del | ENSP00000350457.7:p.Leu326SerfsTer? | |
| ENST00000357857.13:c.1110del | ENSP00000350523.9:p.Leu371SerfsTer? | |
| ENST00000359984.11:c.966del | ENSP00000353073.8:p.Leu323SerfsTer? | |
| ENST00000360019.6:c.1272del | ENSP00000353116.2:p.Leu425SerfsTer? | |
| ENST00000395653.8:c.972del | ENSP00000379014.4:p.Leu325SerfsTer? | |
| ENST00000561689.5:n.1241del | ||
| ENST00000563874.5:n.2800del | ||
| ENST00000564091.5:c.361del | ||
| ENST00000565140.5:c.1180del | ENSP00000455342.1:n.1180del | |
| ENST00000565316.5:c.1221del | ENSP00000456117.1:p.Leu408SerfsTer? | |
| ENST00000565354.5:n.585del | ||
| ENST00000566057.5:c.886del | ENSP00000456693.1:n.886del | |
| ENST00000567963.5:c.981del | ENSP00000455387.1:p.Leu328SerfsTer? | |
| ENST00000568076.5:n.1183del | ||
| ENST00000568224.4:c.1038del | ENSP00000454253.1:p.Leu347SerfsTer? | |
| ENST00000568422.5:c.*509del | ENSP00000455549.1:n.*509del | |
| ENST00000568452.5:n.1400del | ||
| ENST00000569030.5:c.1064del | ENSP00000454680.1:n.1064del | |
| ENST00000569430.5:c.1272del | ENSP00000454229.1:p.Leu425SerfsTer? | |
| ENST00000628023.2:c.*568del | ENSP00000486178.1:n.*568del | |
| ENST00000631023.2:c.981del | ENSP00000486616.1:p.Leu328SerfsTer? | |
| NM_000086.2:c.1272del , LRG_689t1:c.1272del | NP_000077.1:p.Leu425SerfsTer? | |
| NM_001042432.1:c.1272del , LRG_689t2:c.1272del | NP_001035897.1:p.Leu425SerfsTer? | |
| NM_001286104.1:c.1200del | NP_001273033.1:p.Leu401SerfsTer? | |
| NM_001286105.1:c.972del | NP_001273034.1:p.Leu325SerfsTer? | |
| NM_001286109.1:c.1038del | NP_001273038.1:p.Leu347SerfsTer? | |
| NM_001286110.1:c.1110del | NP_001273039.1:p.Leu371SerfsTer? | |
| NM_001042432.2:c.1272del MANE Select | NP_001035897.1:p.Leu425SerfsTer? | |
| NM_001286104.2:c.1200del | NP_001273033.1:p.Leu401SerfsTer? | |
| NM_001286105.2:c.972del | NP_001273034.1:p.Leu325SerfsTer? | |
| NM_001286109.2:c.1038del | NP_001273038.1:p.Leu347SerfsTer? | |
| NM_001286110.2:c.1110del | NP_001273039.1:p.Leu371SerfsTer? |