Linked Data
ClinVar Variation Id:
56370
ClinVar RCV Id:
RCV000049783
dbSNP Id:
rs386833818
ExAC:
14:23249214 C / CA
gnomAD v2:
14-23249214-C-CA
gnomAD v4:
14-22780005-C-CA
MyVariant Identifiers:
chr14:g.23249215dupA (hg19)
chr14:g.23249214_23249215insA (hg19)
chr14:g.22780006dupA (hg38)
chr14:g.22780005_22780006insA (hg38)
PubMed:
PMID:10631139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22780006dup , CM000676.2:g.22780006dup | GRCh38 |
| NC_000014.8:g.23249215dup , CM000676.1:g.23249215dup | GRCh37 |
| NC_000014.7:g.22319055dup | NCBI36 |
| NG_012851.2:g.54815dup , LRG_695:g.54815dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555911.2:c.545dup | ENSP00000452551.2:p.Val183GlyfsTer9 | |
| ENST00000698939.1:c.545dup | ENSP00000514047.1:p.Val183GlyfsTer9 | |
| ENST00000397532.9:c.545dup | ENSP00000380666.4:p.Val183GlyfsTer9 | |
| ENST00000674313.1:c.545dup MANE Select | ENSP00000501493.1:p.Val183GlyfsTer9 | |
| ENST00000285850.11:c.545dup | ENSP00000285850.7:p.Val183GlyfsTer9 | |
| ENST00000397528.8:c.545dup | ENSP00000380662.4:p.Val183GlyfsTer9 | |
| ENST00000397529.6:c.545dup | ENSP00000380663.2:p.Val183GlyfsTer9 | |
| ENST00000397532.7:c.545dup | ENSP00000380666.3:p.Val183GlyfsTer9 | |
| ENST00000554061.5:n.216dup | ||
| ENST00000554517.5:c.-254dup | ENSP00000452083.1:n.-254dup | |
| ENST00000555702.5:c.545dup | ENSP00000451881.1:p.Val183GlyfsTer9 | |
| ENST00000556287.5:c.545dup | ENSP00000450715.1:p.Val183GlyfsTer9 | |
| NM_001126105.2:c.545dup , LRG_695t1:c.545dup | NP_001119577.1:p.Val183GlyfsTer9 | |
| NM_001126106.2:c.545dup , LRG_695t2:c.545dup | NP_001119578.1:p.Val183GlyfsTer9 | |
| NR_040448.1:n.1160dup | ||
| XM_006720302.1:c.545dup | XP_006720365.1:p.Val183GlyfsTer9 | |
| XM_011537298.1:c.545dup | XP_011535600.1:p.Val183GlyfsTer9 | |
| XM_011537299.1:c.545dup | XP_011535601.1:p.Val183GlyfsTer9 | |
| XM_006720302.2:c.545dup | XP_006720365.1:p.Val183GlyfsTer9 | |
| XM_011537298.3:c.545dup | XP_011535600.1:p.Val183GlyfsTer9 | |
| NM_001126105.3:c.545dup | NP_001119577.1:p.Val183GlyfsTer9 | |
| NM_001126106.4:c.545dup | NP_001119578.1:p.Val183GlyfsTer9 | |
| NM_003982.4:c.545dup MANE Select | NP_003973.3:p.Val183GlyfsTer9 |