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:
127271
ClinVar RCV Id:
RCV000157616
dbSNP Id:
rs730880326
PubMed:
PMID:24736737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.57253367dup , CM000677.2:g.57253367dup | GRCh38 |
| NC_000015.9:g.57545565dup , CM000677.1:g.57545565dup | GRCh37 |
| NC_000015.8:g.55332857dup | NCBI36 |
| NG_033851.1:g.339733dup | |
| NG_033851.2:g.340278dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333725.10:c.1366dup MANE Select | ENSP00000331057.6:p.Ile456AsnfsTer3 | |
| ENST00000267811.9:c.1294dup | ENSP00000267811.5:p.Ile432AsnfsTer3 | |
| ENST00000333725.9:c.1366dup | ENSP00000331057.5:p.Ile456AsnfsTer3 | |
| ENST00000343827.7:c.784dup | ENSP00000342459.3:p.Ile262AsnfsTer3 | |
| ENST00000438423.6:c.1366dup | ENSP00000388940.2:p.Ile456AsnfsTer3 | |
| ENST00000537840.5:c.586dup | ENSP00000444696.1:p.Ile196AsnfsTer3 | |
| ENST00000543579.5:c.856dup | ENSP00000440017.1:p.Ile286AsnfsTer3 | |
| ENST00000557843.5:c.1294dup | ENSP00000453737.1:p.Ile432AsnfsTer3 | |
| ENST00000558210.5:n.433dup | ||
| ENST00000559609.5:c.1354dup | ENSP00000453876.1:p.Ile452AsnfsTer3 | |
| ENST00000559703.1:c.268dup | ENSP00000454102.1:p.Ile90AsnfsTer3 | |
| ENST00000559710.5:c.196dup | ENSP00000453264.1:p.Ile66AsnfsTer3 | |
| ENST00000560190.5:n.403-19663dup | ||
| ENST00000560506.5:n.246dup | ||
| ENST00000560764.5:n.1129dup | ||
| ENST00000561420.5:n.292dup | ||
| ENST00000561449.1:n.400dup | ||
| NM_001306219.1:c.856dup | NP_001293148.1:p.Ile286AsnfsTer3 | |
| NM_001306220.1:c.586dup | NP_001293149.1:p.Ile196AsnfsTer3 | |
| NM_003205.3:c.1294dup | NP_003196.1:p.Ile432AsnfsTer3 | |
| NM_207036.1:c.1366dup | NP_996919.1:p.Ile456AsnfsTer3 | |
| NM_207037.1:c.1366dup | NP_996920.1:p.Ile456AsnfsTer3 | |
| NM_207038.1:c.1294dup | NP_996921.1:p.Ile432AsnfsTer3 | |
| NM_207040.1:c.784dup | NP_996923.1:p.Ile262AsnfsTer3 | |
| XM_005254613.3:c.1192dup | XP_005254670.1:p.Ile398AsnfsTer3 | |
| XM_011521959.1:c.1402dup | XP_011520261.1:p.Ile468AsnfsTer3 | |
| XM_011521960.1:c.1402dup | XP_011520262.1:p.Ile468AsnfsTer3 | |
| XM_011521961.1:c.1402dup | XP_011520263.1:p.Ile468AsnfsTer3 | |
| XM_011521962.1:c.1330dup | XP_011520264.1:p.Ile444AsnfsTer3 | |
| XM_011521963.1:c.1330dup | XP_011520265.1:p.Ile444AsnfsTer3 | |
| XM_011521965.1:c.718dup | XP_011520267.1:p.Ile240AsnfsTer3 | |
| XM_011521966.1:c.658dup | XP_011520268.1:p.Ile220AsnfsTer3 | |
| XM_011521967.1:c.646dup | XP_011520269.1:p.Ile216AsnfsTer3 | |
| XM_011521969.1:c.784dup | XP_011520271.1:p.Ile262AsnfsTer3 | |
| NM_001306219.2:c.856dup | NP_001293148.1:p.Ile286AsnfsTer3 | |
| NM_001306220.2:c.586dup | NP_001293149.1:p.Ile196AsnfsTer3 | |
| NM_001322151.1:c.1366dup | NP_001309080.1:p.Ile456AsnfsTer3 | |
| NM_001322152.1:c.1366dup | NP_001309081.1:p.Ile456AsnfsTer3 | |
| NM_001322154.1:c.709dup | NP_001309083.1:p.Ile237AsnfsTer3 | |
| NM_001322156.1:c.1192dup | NP_001309085.1:p.Ile398AsnfsTer3 | |
| NM_001322157.1:c.1294dup | NP_001309086.1:p.Ile432AsnfsTer3 | |
| NM_001322158.1:c.1120dup | NP_001309087.1:p.Ile374AsnfsTer3 | |
| NM_001322159.1:c.1366dup | NP_001309088.1:p.Ile456AsnfsTer3 | |
| NM_001322161.1:c.1363dup | NP_001309090.1:p.Ile455AsnfsTer3 | |
| NM_001322162.1:c.1366dup | NP_001309091.1:p.Ile456AsnfsTer3 | |
| NM_001322164.1:c.1330dup | NP_001309093.1:p.Ile444AsnfsTer3 | |
| NM_001322165.1:c.1294dup | NP_001309094.1:p.Ile432AsnfsTer3 | |
| XM_011521959.3:c.1402dup | XP_011520261.1:p.Ile468AsnfsTer3 | |
| XM_011521960.3:c.1402dup | XP_011520262.1:p.Ile468AsnfsTer3 | |
| XM_011521961.3:c.1402dup | XP_011520263.1:p.Ile468AsnfsTer3 | |
| XM_011521962.3:c.1330dup | XP_011520264.1:p.Ile444AsnfsTer3 | |
| XM_011521963.3:c.1330dup | XP_011520265.1:p.Ile444AsnfsTer3 | |
| XM_011521965.2:c.718dup | XP_011520267.1:p.Ile240AsnfsTer3 | |
| XM_011521966.2:c.658dup | XP_011520268.1:p.Ile220AsnfsTer3 | |
| XM_011521967.2:c.646dup | XP_011520269.1:p.Ile216AsnfsTer3 | |
| XM_017022520.2:c.1294dup | XP_016878009.1:p.Ile432AsnfsTer3 | |
| NM_001306219.3:c.856dup | NP_001293148.1:p.Ile286AsnfsTer3 | |
| NM_001306220.3:c.586dup | NP_001293149.1:p.Ile196AsnfsTer3 | |
| NM_001322152.2:c.1366dup | NP_001309081.1:p.Ile456AsnfsTer3 | |
| NM_001322154.2:c.709dup | NP_001309083.1:p.Ile237AsnfsTer3 | |
| NM_001322156.2:c.1192dup | NP_001309085.1:p.Ile398AsnfsTer3 | |
| NM_001322157.2:c.1294dup | NP_001309086.1:p.Ile432AsnfsTer3 | |
| NM_001322158.2:c.1120dup | NP_001309087.1:p.Ile374AsnfsTer3 | |
| NM_001322159.2:c.1366dup | NP_001309088.1:p.Ile456AsnfsTer3 | |
| NM_001322161.2:c.1363dup | NP_001309090.1:p.Ile455AsnfsTer3 | |
| NM_001322162.2:c.1366dup | NP_001309091.1:p.Ile456AsnfsTer3 | |
| NM_001322164.2:c.1330dup | NP_001309093.1:p.Ile444AsnfsTer3 | |
| NM_001322165.2:c.1294dup | NP_001309094.1:p.Ile432AsnfsTer3 | |
| NM_003205.4:c.1294dup | NP_003196.1:p.Ile432AsnfsTer3 | |
| NM_207036.2:c.1366dup | NP_996919.1:p.Ile456AsnfsTer3 | |
| NM_207037.2:c.1366dup MANE Select | NP_996920.1:p.Ile456AsnfsTer3 | |
| NM_207038.2:c.1294dup | NP_996921.1:p.Ile432AsnfsTer3 | |
| NM_207040.2:c.784dup | NP_996923.1:p.Ile262AsnfsTer3 | |
| NM_001322151.2:c.1366dup | NP_001309080.1:p.Ile456AsnfsTer3 | |
| NM_001322157.3:c.1294dup | NP_001309086.1:p.Ile432AsnfsTer3 | |
| NM_001322159.3:c.1366dup | NP_001309088.1:p.Ile456AsnfsTer3 |