Linked Data
ClinVar Variation Id:
35597
ClinVar RCV Id:
RCV000029242
dbSNP Id:
rs398122868
gnomAD v3:
1-56945878-G-GCACAGCC
gnomAD v4:
1-56945878-G-GCACAGCC
MyVariant Identifiers:
chr1:g.57411552_57411558dupCACAGCC (hg19)
chr1:g.57411551_57411552insCACAGCC (hg19)
chr1:g.56945879_56945885dupCACAGCC (hg38)
chr1:g.56945878_56945879insCACAGCC (hg38)
PubMed:
PMID:19434484
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.56945879_56945885dup , CM000663.2:g.56945879_56945885dup | GRCh38 |
| NC_000001.10:g.57411552_57411558dup , CM000663.1:g.57411552_57411558dup | GRCh37 |
| NC_000001.9:g.57184140_57184146dup | NCBI36 |
| NG_007285.1:g.25131_25137dup , LRG_31:g.25131_25137dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468990.2:c.*882_*888dup | ENSP00000512215.1:n.*882_*888dup | |
| ENST00000494324.2:c.*1146_*1152dup | ENSP00000512216.1:n.*1146_*1152dup | |
| ENST00000695842.1:c.1041_1047dup | ENSP00000512214.1:p.Leu350GlyfsTer8 | |
| ENST00000695843.1:c.*882_*888dup | ENSP00000512217.1:n.*882_*888dup | |
| ENST00000696144.1:c.1041_1047dup | ENSP00000512436.1:p.Leu350GlyfsTer8 | |
| ENST00000696164.1:c.1041_1047dup | ENSP00000512454.1:p.Leu350GlyfsTer8 | |
| ENST00000696165.1:c.*882_*888dup | ENSP00000512455.1:n.*882_*888dup | |
| ENST00000696166.1:c.*882_*888dup | ENSP00000512456.1:n.*882_*888dup | |
| ENST00000371237.9:c.1041_1047dup MANE Select | ENSP00000360281.4:p.Leu350GlyfsTer8 | |
| ENST00000371237.8:c.1041_1047dup | ENSP00000360281.4:p.Leu350GlyfsTer8 | |
| ENST00000535057.5:c.855_861dup | ENSP00000440113.1:p.Leu288GlyfsTer8 | |
| ENST00000543257.5:c.885_891dup | ENSP00000442548.1:p.Leu298GlyfsTer8 | |
| NM_000066.3:c.1041_1047dup | NP_000057.2:p.Leu350GlyfsTer8 | |
| NM_001278543.1:c.885_891dup | NP_001265472.1:p.Leu298GlyfsTer8 | |
| NM_001278544.1:c.855_861dup | NP_001265473.1:p.Leu288GlyfsTer8 | |
| XM_017002235.1:c.1041_1047dup | XP_016857724.1:p.Leu350GlyfsTer8 | |
| XR_001737397.1:n.965-2061_965-2055dup | ||
| NM_000066.4:c.1041_1047dup MANE Select | NP_000057.3:p.Leu350GlyfsTer8 | |
| NM_001278543.2:c.885_891dup | NP_001265472.2:p.Leu298GlyfsTer8 | |
| NM_001278544.2:c.855_861dup | NP_001265473.2:p.Leu288GlyfsTer8 |