Linked Data
ClinVar Variation Id:
426813
ClinVar RCV Id:
RCV000490138
dbSNP Id:
rs1085307810
gnomAD v4:
2-27232193-TCAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27232196_27232199del , CM000664.2:g.27232196_27232199del | GRCh38 |
| NC_000002.11:g.27455064_27455067del , CM000664.1:g.27455064_27455067del | GRCh37 |
| NC_000002.10:g.27308568_27308571del | NCBI36 |
| NG_046394.1:g.19807_19810del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264705.9:c.2617_2620del MANE Select | ENSP00000264705.3:p.Asp873AsnfsTer8 | |
| ENST00000264705.8:c.2617_2620del | ENSP00000264705.3:p.Asp873AsnfsTer8 | |
| ENST00000403525.5:c.2428_2431del | ENSP00000384510.1:p.Asp810AsnfsTer8 | |
| ENST00000464159.1:n.365_368del | ||
| NM_001306079.1:c.2428_2431del | NP_001293008.1:p.Asp810AsnfsTer8 | |
| NM_004341.3:c.2617_2620del | NP_004332.2:p.Asp873AsnfsTer8 | |
| NM_004341.4:c.2617_2620del | NP_004332.2:p.Asp873AsnfsTer8 | |
| XM_005264555.2:c.2617_2620del | XP_005264612.1:p.Asp873AsnfsTer8 | |
| XM_005264556.2:c.2617_2620del | XP_005264613.1:p.Asp873AsnfsTer8 | |
| XM_005264557.2:c.2617_2620del | XP_005264614.1:p.Asp873AsnfsTer8 | |
| XM_006712101.1:c.2428_2431del | XP_006712164.1:p.Asp810AsnfsTer8 | |
| XM_006712101.3:c.2428_2431del | XP_006712164.1:p.Asp810AsnfsTer8 | |
| XM_024453131.1:c.343_346del | XP_024308899.1:p.Asp115AsnfsTer8 | |
| NM_004341.5:c.2617_2620del MANE Select | NP_004332.2:p.Asp873AsnfsTer8 | |
| NM_001306079.2:c.2428_2431del | NP_001293008.1:p.Asp810AsnfsTer8 |