Linked Data
ClinVar Variation Id:
806116
ClinVar RCV Id:
RCV000993977
RCV001326528
RCV003446567
RCV003446569
RCV003446566
RCV003446568
RCV003446570
dbSNP Id:
rs1557645931
gnomAD v2:
1-43395362-CCTT-C
gnomAD v3:
1-42929691-CCTT-C
gnomAD v4:
1-42929691-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42929697_42929699del , CM000663.2:g.42929697_42929699del | GRCh38 |
| NC_000001.10:g.43395368_43395370del , CM000663.1:g.43395368_43395370del | GRCh37 |
| NC_000001.9:g.43167955_43167957del | NCBI36 |
| NG_008232.1:g.34483_34485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.766_768del MANE Select | ENSP00000416293.2:p.Lys256del | |
| ENST00000669445.1:c.96_98del | ||
| ENST00000674765.1:c.766_768del | ENSP00000501811.1:p.Lys256del | |
| ENST00000675112.1:n.789_791del | ||
| ENST00000676254.1:n.1215_1217del | ||
| ENST00000426263.7:c.766_768del | ENSP00000416293.2:p.Lys256del | |
| ENST00000439722.2:c.645_647del | ENSP00000395521.2:n.645_647del | |
| ENST00000475162.3:c.415+932_415+934del | ||
| ENST00000630287.2:c.*81_*83del | ENSP00000486694.1:n.*81_*83del | |
| NM_006516.2:c.766_768del | NP_006507.2:p.Lys256del | |
| NM_006516.3:c.766_768del | NP_006507.2:p.Lys256del | |
| NM_006516.4:c.766_768del MANE Select | NP_006507.2:p.Lys256del |