Linked Data
ClinVar Variation Id:
251671
ClinVar RCV Id:
RCV000237837
dbSNP Id:
rs879254795
MyVariant Identifiers:
chr19:g.11222244_11222252delinsCACTGA (hg19)
chr19:g.11111568_11111576delinsCACTGA (hg38)
PubMed:
PMID:8005585
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111568_11111576delinsCACTGA , CM000681.2:g.11111568_11111576delinsCACTGA | GRCh38 |
| NC_000019.9:g.11222244_11222252delinsCACTGA , CM000681.1:g.11222244_11222252delinsCACTGA | GRCh37 |
| NC_000019.8:g.11083244_11083252delinsCACTGA | NCBI36 |
| NG_009060.1:g.27188_27196delinsCACTGA , LRG_274:g.27188_27196delinsCACTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1373_1381delinsCACTGA | ENSP00000252444.6:p.Glu458_Tyr461delinsAlaLeuAsn | |
| ENST00000559340.2:c.1115_1123delinsCACTGA | ENSP00000453696.2:p.Glu372_Tyr375delinsAlaLeuAsn | |
| ENST00000560467.2:c.995_1003delinsCACTGA | ENSP00000453513.2:p.Glu332_Tyr335delinsAlaLeuAsn | |
| ENST00000558518.6:c.1115_1123delinsCACTGA MANE Select | ENSP00000454071.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| ENST00000252444.9:c.1369_1377delinsCACTGA | ||
| ENST00000455727.6:c.611_619delinsCACTGA | ENSP00000397829.2:p.Glu204_Tyr207delinsAlaLeuAsn | |
| ENST00000535915.5:c.992_1000delinsCACTGA | ENSP00000440520.1:p.Glu331_Tyr334delinsAlaLeuAsn | |
| ENST00000545707.5:c.734_742delinsCACTGA | ENSP00000437639.1:p.Glu245_Tyr248delinsAlaLeuAsn | |
| ENST00000557933.5:c.1115_1123delinsCACTGA | ENSP00000453557.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| ENST00000558013.5:c.1115_1123delinsCACTGA | ENSP00000453346.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| ENST00000558518.5:c.1115_1123delinsCACTGA | ENSP00000454071.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| ENST00000560173.1:n.114_122delinsCACTGA | ||
| ENST00000560467.1:c.595_603delinsCACTGA | ||
| NM_000527.4:c.1115_1123delinsCACTGA , LRG_274t1:c.1115_1123delinsCACTGA | NP_000518.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| NM_001195798.1:c.1115_1123delinsCACTGA | NP_001182727.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| NM_001195799.1:c.992_1000delinsCACTGA | NP_001182728.1:p.Glu331_Tyr334delinsAlaLeuAsn | |
| NM_001195800.1:c.611_619delinsCACTGA | NP_001182729.1:p.Glu204_Tyr207delinsAlaLeuAsn | |
| NM_001195803.1:c.734_742delinsCACTGA | NP_001182732.1:p.Glu245_Tyr248delinsAlaLeuAsn | |
| XM_011528010.1:c.1115_1123delinsCACTGA | XP_011526312.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| XM_011528011.1:c.734_742delinsCACTGA | XP_011526313.1:p.Glu245_Tyr248delinsAlaLeuAsn | |
| XR_244074.2:n.1265_1273delinsCACTGA | ||
| XM_011528010.2:c.1115_1123delinsCACTGA | XP_011526312.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| XR_001753685.2:n.1232_1240delinsCACTGA | ||
| XR_001753686.2:n.1232_1240delinsCACTGA | ||
| NM_000527.5:c.1115_1123delinsCACTGA MANE Select | NP_000518.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| NM_001195798.2:c.1115_1123delinsCACTGA | NP_001182727.1:p.Glu372_Tyr375delinsAlaLeuAsn | |
| NM_001195799.2:c.992_1000delinsCACTGA | NP_001182728.1:p.Glu331_Tyr334delinsAlaLeuAsn | |
| NM_001195800.2:c.611_619delinsCACTGA | NP_001182729.1:p.Glu204_Tyr207delinsAlaLeuAsn | |
| NM_001195803.2:c.734_742delinsCACTGA | NP_001182732.1:p.Glu245_Tyr248delinsAlaLeuAsn |