Linked Data
ClinVar Variation Id:
1388272
ClinVar RCV Id:
RCV003534770
dbSNP Id:
rs565045828
gnomAD v3:
5-112707585-C-CGG
gnomAD v4:
5-112707585-C-CGG
MyVariant Identifiers:
chr5:g.112043282_112043283insGG (hg19)
chr5:g.112707585_112707586insGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707591_112707592dup , CM000667.2:g.112707591_112707592dup | GRCh38 |
| NC_000005.9:g.112043288_112043289dup , CM000667.1:g.112043288_112043289dup | GRCh37 |
| NC_000005.8:g.112071187_112071188dup | NCBI36 |
| NG_008481.4:g.20071_20072dup , LRG_130:g.20071_20072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.-127_-126dup | ENSP00000481752.1:n.-127_-126dup | |
| ENST00000507379.6:c.-127_-126dup | ENSP00000423224.2:n.-127_-126dup | |
| ENST00000509732.6:c.-77_-76dup | ENSP00000426541.2:n.-77_-76dup | |
| ENST00000505350.1:c.-127_-126dup | ENSP00000481752.1:n.-127_-126dup | |
| ENST00000507379.5:c.-127_-126dup | ENSP00000423224.1:n.-127_-126dup | |
| ENST00000509732.5:c.-77_-76dup | ENSP00000426541.1:n.-77_-76dup | |
| NM_001127511.2:c.-127_-126dup | NP_001120983.2:n.-127_-126dup | |
| NM_001354895.1:c.-310_-309dup | NP_001341824.1:n.-310_-309dup | |
| NM_001354897.1:c.-127_-126dup | NP_001341826.1:n.-127_-126dup | |
| NM_001354902.1:c.-127_-126dup | NP_001341831.1:n.-127_-126dup | |
| NM_001127511.3:c.-127_-126dup | NP_001120983.2:n.-127_-126dup | |
| NM_001354895.2:c.-310_-309dup | NP_001341824.1:n.-310_-309dup | |
| NM_001354897.2:c.-127_-126dup | NP_001341826.1:n.-127_-126dup | |
| NM_001354902.2:c.-127_-126dup | NP_001341831.1:n.-127_-126dup |