Linked Data
ClinVar Variation Id:
369662
ClinVar RCV Id:
RCV000408604
dbSNP Id:
rs1057516032
MyVariant Identifiers:
chr19:g.42474363_42474367delinsGA (hg19)
chr19:g.41970211_41970215delinsGA (hg38)
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41970211_41970215delinsGA , CM000681.2:g.41970211_41970215delinsGA | GRCh38 |
| NC_000019.9:g.42474363_42474367delinsGA , CM000681.1:g.42474363_42474367delinsGA | GRCh37 |
| NC_000019.8:g.47166203_47166207delinsGA | NCBI36 |
| NG_008015.1:g.29016_29020delinsTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545399.6:c.2551_2555delinsTC | ENSP00000444688.1:p.Arg851_Leu852delinsSe... | |
| ENST00000644613.1:c.2512_2516delinsTC | ENSP00000494711.1:p.Arg838_Leu839delinsSe... | |
| ENST00000648268.1:c.2512_2516delinsTC MANE Select | ENSP00000498113.1:p.Arg838_Leu839delinsSe... | |
| ENST00000302102.9:c.2512_2516delinsTC | ENSP00000302397.5:p.Arg838_Leu839delinsSe... | |
| ENST00000441343.5:c.2512_2516delinsTC | ENSP00000411503.1:p.Arg838_Leu839delinsSe... | |
| ENST00000543770.5:c.2545_2549delinsTC | ENSP00000437577.1:p.Arg849_Leu850delinsSe... | |
| ENST00000545399.5:c.2551_2555delinsTC | ENSP00000444688.1:p.Arg851_Leu852delinsSe... | |
| ENST00000602133.5:c.2422_2426delinsTC | ENSP00000471581.1:p.Arg808_Leu809delinsSe... | |
| NM_001256213.1:c.2545_2549delinsTC | NP_001243142.1:p.Arg849_Leu850delinsSer | |
| NM_001256214.1:c.2551_2555delinsTC | NP_001243143.1:p.Arg851_Leu852delinsSer | |
| NM_152296.4:c.2512_2516delinsTC | NP_689509.1:p.Arg838_Leu839delinsSer | |
| XM_011526991.1:c.2422_2426delinsTC | XP_011525293.1:p.Arg808_Leu809delinsSer | |
| NM_152296.5:c.2512_2516delinsTC MANE Select | NP_689509.1:p.Arg838_Leu839delinsSer | |
| NM_001256214.2:c.2551_2555delinsTC | NP_001243143.1:p.Arg851_Leu852delinsSer | |
| NM_001256213.2:c.2545_2549delinsTC | NP_001243142.1:p.Arg849_Leu850delinsSer |