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:
8501
ClinVar RCV Id:
RCV000009024
dbSNP Id:
rs587776694
gnomAD v2:
19-13409633-G-GC
gnomAD v4:
19-13298819-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13298825dup , CM000681.2:g.13298825dup | GRCh38 |
| NC_000019.9:g.13409639dup , CM000681.1:g.13409639dup | GRCh37 |
| NC_000019.8:g.13270639dup | NCBI36 |
| NG_011569.1:g.212641dup , LRG_7:g.212641dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360228.11:c.2813dup MANE Select | ENSP00000353362.5:p.Ser939GlnfsTer? | |
| ENST00000573710.7:c.2819dup | ENSP00000460092.3:p.Ser941GlnfsTer? | |
| ENST00000635727.1:c.2816dup | ENSP00000490001.1:p.Ser940GlnfsTer? | |
| ENST00000635895.1:c.2816dup | ENSP00000490323.1:p.Ser940GlnfsTer? | |
| ENST00000636012.1:c.2816dup | ENSP00000490223.1:p.Ser940GlnfsTer? | |
| ENST00000636389.1:c.2816dup | ENSP00000489992.1:p.Ser940GlnfsTer? | |
| ENST00000636549.1:c.2816dup | ENSP00000490578.1:p.Ser940GlnfsTer? | |
| ENST00000637276.1:c.2816dup | ENSP00000489777.1:p.Ser940GlnfsTer? | |
| ENST00000637432.1:c.2825dup | ENSP00000490617.1:p.Ser943GlnfsTer? | |
| ENST00000637736.1:c.2675dup | ENSP00000489861.1:p.Ser893GlnfsTer? | |
| ENST00000637769.1:c.2816dup | ENSP00000489778.1:p.Ser940GlnfsTer? | |
| ENST00000637927.1:c.2819dup | ENSP00000489715.1:p.Ser941GlnfsTer? | |
| ENST00000638009.2:c.2816dup | ENSP00000489913.1:p.Ser940GlnfsTer? | |
| ENST00000638029.1:c.2825dup | ENSP00000489829.1:p.Ser943GlnfsTer? | |
| ENST00000664864.1:c.3011dup | ENSP00000499449.1:p.Ser1005GlnfsTer? | |
| ENST00000360228.9:c.2813dup | ENSP00000353362.5:p.Ser939GlnfsTer? | |
| ENST00000573710.6:c.2816dup | ENSP00000460092.2:p.Ser940GlnfsTer? | |
| ENST00000614285.4:c.2825dup | ENSP00000479983.1:p.Ser943GlnfsTer? | |
| NM_000068.3:c.2825dup | NP_000059.3:p.Ser943GlnfsTer? | |
| NM_001127221.1:c.2816dup , LRG_7t1:c.2816dup | NP_001120693.1:p.Ser940GlnfsTer? | |
| NM_001127222.1:c.2813dup | NP_001120694.1:p.Ser939GlnfsTer? | |
| NM_001174080.1:c.2816dup | NP_001167551.1:p.Ser940GlnfsTer? | |
| NM_023035.2:c.2825dup | NP_075461.2:p.Ser943GlnfsTer? | |
| NM_000068.4:c.2825dup | NP_000059.3:p.Ser943GlnfsTer? | |
| NM_001127222.2:c.2813dup MANE Select | NP_001120694.1:p.Ser939GlnfsTer? | |
| NM_001174080.2:c.2816dup | NP_001167551.1:p.Ser940GlnfsTer? | |
| NM_023035.3:c.2825dup | NP_075461.2:p.Ser943GlnfsTer? | |
| NM_001127221.2:c.2816dup | NP_001120693.1:p.Ser940GlnfsTer? |