Linked Data
ClinVar Variation Id:
93389
dbSNP Id:
rs3217385
ExAC:
19:41928867 G / GC
gnomAD v2:
19-41928867-G-GC
gnomAD v3:
19-41422962-G-GC
gnomAD v4:
19-41422962-G-GC
COSMIC:
COSN15647508
COSN15647509
COSN15647510
COSN15647511
COSN15647512
COSN15647513
COSN15647514
COSN15647515
COSN15647516
COSN15647517
COSN15647518
COSN15647519
COSN15647520
COSN15647521
COSN15647522
COSN15647523
MyVariant Identifiers:
chr19:g.41928870dup (hg19)
chr19:g.41928870dupC (hg19)
chr19:g.41928867_41928868insC (hg19)
chr19:g.41422965dupC (hg38)
chr19:g.41422962_41422963insC (hg38)
PubMed:
PMID:23757202
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422965dup , CM000681.2:g.41422965dup | GRCh38 |
| NC_000019.9:g.41928870dup , CM000681.1:g.41928870dup | GRCh37 |
| NC_000019.8:g.46620710dup | NCBI36 |
| NG_013004.1:g.30177dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.996-33dup MANE Select | ENSP00000269980.2:n.996-33dup | |
| ENST00000269980.6:c.996-33dup | ENSP00000269980.2:n.996-33dup | |
| ENST00000457836.6:c.972dup | ENSP00000416000.2:p.Thr325HisfsTer19 | |
| ENST00000540732.3:c.1098-33dup | ENSP00000443246.1:n.1098-33dup | |
| ENST00000542943.5:c.909-33dup | ENSP00000440345.1:n.909-33dup | |
| ENST00000595085.5:c.922+268dup | ENSP00000471150.2:n.922+268dup | |
| NM_000709.3:c.996-33dup | NP_000700.1:n.996-33dup | |
| NM_001164783.1:c.993-33dup | NP_001158255.1:n.993-33dup | |
| NM_000709.4:c.996-33dup MANE Select | NP_000700.1:n.996-33dup | |
| NM_001164783.2:c.993-33dup | NP_001158255.1:n.993-33dup |