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:
7918
ClinVar RCV Id:
RCV000008380
dbSNP Id:
rs587776676
MyVariant Identifiers:
chr4:g.175439205_175439214delinsTG (hg19)
chr4:g.174518054_174518063delinsTG (hg38)
PubMed:
PMID:18500342
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174518054_174518063delinsTG , CM000666.2:g.174518054_174518063delinsTG | GRCh38 |
| NC_000004.11:g.175439205_175439214delinsTG , CM000666.1:g.175439205_175439214delinsTG | GRCh37 |
| NC_000004.10:g.175675780_175675789delinsTG | NCBI36 |
| NG_011689.1:g.9579_9588delinsCA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296522.11:c.232_241delinsCA MANE Select | ENSP00000296522.6:p.Val78GlnfsTer11 | |
| ENST00000296521.11:c.232_241delinsCA | ENSP00000296521.7:p.Val78GlnfsTer11 | |
| ENST00000296522.10:c.232_241delinsCA | ENSP00000296522.6:p.Val78GlnfsTer11 | |
| ENST00000422112.6:c.217+3881_217+3890delinsCA | ENSP00000398720.2:n.217+3881_217+3890delinsCA | |
| ENST00000504433.1:c.232_241delinsCA | ENSP00000420892.1:p.Val78GlnfsTer11 | |
| ENST00000506910.5:c.-132_-123delinsCA | ENSP00000423066.1:n.-132_-123delinsCA | |
| ENST00000508330.5:c.217+3881_217+3890delinsCA | ENSP00000425741.1:n.217+3881_217+3890delinsCA | |
| ENST00000510835.5:c.108_*3delinsCA | ENSP00000427699.1:n.[c.108_*3delinsCA;Lys36AsnfsTer?] | |
| ENST00000510901.5:c.-132_-123delinsCA | ENSP00000422418.1:n.-132_-123delinsCA | |
| ENST00000512410.1:n.213_222delinsCA | ||
| ENST00000514584.5:c.-132_-123delinsCA | ENSP00000423110.1:n.-132_-123delinsCA | |
| ENST00000541923.5:c.-40+3881_-40+3890delinsCA | ENSP00000438017.1:n.-40+3881_-40+3890delinsCA | |
| ENST00000542498.5:c.232_241delinsCA | ENSP00000443644.1:p.Val78GlnfsTer11 | |
| NM_000860.5:c.232_241delinsCA | NP_000851.2:p.Val78GlnfsTer11 | |
| NM_001145816.2:c.232_241delinsCA | NP_001139288.1:p.Val78GlnfsTer11 | |
| NM_001256301.1:c.-132_-123delinsCA | NP_001243230.1:n.-132_-123delinsCA | |
| NM_001256305.1:c.232_241delinsCA | NP_001243234.1:p.Val78GlnfsTer11 | |
| NM_001256306.1:c.217+3881_217+3890delinsCA | NP_001243235.1:n.217+3881_217+3890delinsCA | |
| NM_001256307.1:c.-40+3881_-40+3890delinsCA | NP_001243236.1:n.-40+3881_-40+3890delinsCA | |
| XM_011531907.1:c.232_241delinsCA | XP_011530209.1:p.Val78GlnfsTer11 | |
| XR_938728.1:n.674_683delinsCA | ||
| NM_001363574.1:c.232_241delinsCA | NP_001350503.1:p.Val78GlnfsTer11 | |
| XR_938728.2:n.269_278delinsCA | ||
| NM_000860.6:c.232_241delinsCA MANE Select | NP_000851.2:p.Val78GlnfsTer11 | |
| NM_001363574.2:c.232_241delinsCA | NP_001350503.1:p.Val78GlnfsTer11 | |
| NM_001145816.3:c.232_241delinsCA | NP_001139288.1:p.Val78GlnfsTer11 | |
| NM_001256305.2:c.232_241delinsCA | NP_001243234.1:p.Val78GlnfsTer11 | |
| NM_001256306.2:c.217+3881_217+3890delinsCA | NP_001243235.1:n.217+3881_217+3890delinsCA | |
| NM_001256307.2:c.-40+3881_-40+3890delinsCA | NP_001243236.1:n.-40+3881_-40+3890delinsCA |