Linked Data
ClinVar Variation Id:
42956
ClinVar RCV Id:
RCV000035849
RCV000143924
RCV000198751
RCV000202937
RCV000251461
RCV000308973
RCV000305277
RCV000335651
RCV000758032
RCV001262908
RCV001357390
RCV003320066
dbSNP Id:
rs45504498
ExAC:
14:23889445 T / TG
gnomAD v2:
14-23889445-T-TG
gnomAD v3:
14-23420236-T-TG
gnomAD v4:
14-23420236-T-TG
MyVariant Identifiers:
chr14:g.23889446dupG (hg19)
chr14:g.23889447_23889448insG (hg19)
chr14:g.23889445_23889446insG (hg19)
chr14:g.23420237dupG (hg38)
chr14:g.23420238_23420239insG (hg38)
chr14:g.23420236_23420237insG (hg38)
ERepo:
CA013590/MONDO:0004994/002
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420238dup , CM000676.2:g.23420238dup | GRCh38 |
| NC_000014.8:g.23889447dup , CM000676.1:g.23889447dup | GRCh37 |
| NC_000014.7:g.22959287dup | NCBI36 |
| NG_007884.1:g.20425dup , LRG_384:g.20425dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3337-3dup MANE Select | ENSP00000347507.3:n.3337-3dup | |
| ENST00000355349.3:c.3337-3dup | ENSP00000347507.3:n.3337-3dup | |
| NM_000257.3:c.3337-3dup | NP_000248.2:n.3337-3dup | |
| XR_245686.3:n.3445-3dup | ||
| XM_017021340.1:c.3337-3dup | XP_016876829.1:n.3337-3dup | |
| NM_000257.4:c.3337-3dup MANE Select | NP_000248.2:n.3337-3dup |