Linked Data
ClinVar Variation Id:
7697
ClinVar RCV Id:
RCV000008136
dbSNP Id:
rs587776664
gnomAD v3:
3-57198398-CTG-C
gnomAD v4:
3-57198398-CTG-C
PubMed:
PMID:16940453
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57198400_57198401del , CM000665.2:g.57198400_57198401del | GRCh38 |
| NC_000003.11:g.57232428_57232429del , CM000665.1:g.57232428_57232429del | GRCh37 |
| NC_000003.10:g.57207468_57207469del | NCBI36 |
| NG_008242.1:g.6853_6854del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295934.8:c.450_451del MANE Select | ENSP00000295934.3:p.Asp150GlufsTer18 | |
| ENST00000647958.1:c.450_451del | ENSP00000498190.1:p.Asp150GlufsTer18 | |
| ENST00000295934.7:c.450_451del | ENSP00000295934.3:p.Asp150GlufsTer18 | |
| ENST00000473921.2:c.358-105_358-104del | ENSP00000418918.1:n.358-105_358-104del | |
| NM_003865.2:c.450_451del | NP_003856.1:p.Asp150GlufsTer18 | |
| XM_005265526.3:c.450_451del | XP_005265583.1:p.Asp150GlufsTer18 | |
| XM_006713379.2:c.450_451del | XP_006713442.1:p.Asp150GlufsTer18 | |
| XM_011534204.1:c.450_451del | XP_011532506.1:p.Asp150GlufsTer18 | |
| XM_011534205.1:c.450_451del | XP_011532507.1:p.Asp150GlufsTer18 | |
| XM_005265526.4:c.450_451del | XP_005265583.1:p.Asp150GlufsTer18 | |
| XM_011534204.2:c.450_451del | XP_011532506.1:p.Asp150GlufsTer18 | |
| XM_011534205.2:c.450_451del | XP_011532507.1:p.Asp150GlufsTer18 | |
| XM_017007421.1:c.450_451del | XP_016862910.1:p.Asp150GlufsTer18 | |
| XM_024453809.1:c.450_451del | XP_024309577.1:p.Asp150GlufsTer18 | |
| NM_003865.3:c.450_451del MANE Select | NP_003856.1:p.Asp150GlufsTer18 | |
| NM_001376058.1:c.450_451del | NP_001362987.1:p.Asp150GlufsTer18 | |
| NM_001376059.1:c.450_451del | NP_001362988.1:p.Asp150GlufsTer18 | |
| NM_001376060.1:c.450_451del | NP_001362989.1:p.Asp150GlufsTer18 | |
| NM_001376061.1:c.450_451del | NP_001362990.1:p.Asp150GlufsTer18 | |
| NR_164757.1:n.943_944del |