Linked Data
ClinVar Variation Id:
370825
ClinVar RCV Id:
RCV000409917
dbSNP Id:
rs1057516797
MyVariant Identifiers:
chr5:g.131705824_131705830dupGACGCCG (hg19)
chr5:g.132370132_132370138dupGACGCCG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132370132_132370138dup , CM000667.2:g.132370132_132370138dup | GRCh38 |
| NC_000005.9:g.131705824_131705830dup , CM000667.1:g.131705824_131705830dup | GRCh37 |
| NC_000005.8:g.131733723_131733729dup | NCBI36 |
| NG_008982.1:g.5424_5430dup | |
| NG_008982.2:g.5429_5435dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000415928.6:c.160_166dup | ENSP00000388838.2:p.Ala56GlyfsTer? | |
| ENST00000435065.7:c.160_166dup | ENSP00000402760.2:p.Ala56GlyfsTer? | |
| ENST00000448810.6:c.160_166dup | ENSP00000401860.2:p.Ala56GlyfsTer? | |
| ENST00000686757.1:c.160_166dup | ENSP00000510721.1:p.Ala56GlyfsTer? | |
| ENST00000687740.1:n.294_300dup | ||
| ENST00000689271.1:c.160_166dup | ENSP00000510797.1:p.Ala56GlyfsTer? | |
| ENST00000690900.1:c.160_166dup | ENSP00000510703.1:p.Ala56GlyfsTer? | |
| ENST00000692413.1:c.160_166dup | ENSP00000509374.1:p.Ala56GlyfsTer? | |
| ENST00000692825.1:c.160_166dup | ENSP00000509447.1:p.Ala56GlyfsTer? | |
| ENST00000693308.1:c.160_166dup | ENSP00000509770.1:p.Ala56GlyfsTer? | |
| ENST00000693763.1:n.294_300dup | ||
| ENST00000245407.8:c.160_166dup MANE Select | ENSP00000245407.3:p.Ala56GlyfsTer? | |
| ENST00000245407.7:c.160_166dup | ENSP00000245407.3:p.Ala56GlyfsTer? | |
| ENST00000435065.6:c.160_166dup | ENSP00000402760.2:p.Ala56GlyfsTer? | |
| ENST00000437841.6:c.160_166dup | ENSP00000400553.1:p.Ala56GlyfsTer? | |
| NM_001308122.1:c.160_166dup | NP_001295051.1:p.Ala56GlyfsTer? | |
| NM_003060.3:c.160_166dup | NP_003051.1:p.Ala56GlyfsTer? | |
| XR_427718.1:n.429_435dup | ||
| XR_948290.1:n.429_435dup | ||
| XR_948291.1:n.429_435dup | ||
| XR_001742215.1:n.429_435dup | ||
| XR_001742216.1:n.429_435dup | ||
| XR_427718.2:n.429_435dup | ||
| XR_948290.2:n.429_435dup | ||
| XR_948291.2:n.429_435dup | ||
| NM_003060.4:c.160_166dup MANE Select | NP_003051.1:p.Ala56GlyfsTer? | |
| NM_001308122.2:c.160_166dup | NP_001295051.1:p.Ala56GlyfsTer? |