Linked Data
ClinVar Variation Id:
39475
ClinVar RCV Id:
RCV000032671
dbSNP Id:
rs797044468
gnomAD v4:
11-72229676-CA-C
PubMed:
PMID:23273567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72229677del , CM000673.2:g.72229677del | GRCh38 |
| NC_000011.9:g.71940721del , CM000673.1:g.71940721del | GRCh37 |
| NC_000011.8:g.71618369del | NCBI36 |
| NG_023253.1:g.9840del | |
| NG_023253.2:g.9840del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298229.7:c.768del MANE Select | ENSP00000298229.2:p.Glu258SerfsTer4 | |
| ENST00000298229.6:c.768del | ENSP00000298229.2:p.Glu258SerfsTer4 | |
| ENST00000537656.1:c.42del | ENSP00000444630.1:p.Glu16SerfsTer4 | |
| ENST00000538751.5:c.42del | ENSP00000444619.1:p.Glu16SerfsTer4 | |
| ENST00000540329.5:c.27+119del | ENSP00000440018.1:n.27+119del | |
| ENST00000541756.5:c.570del | ENSP00000446360.2:p.Glu192SerfsTer4 | |
| NM_001567.3:c.768del | NP_001558.3:p.Glu258SerfsTer4 | |
| XM_005273978.3:c.834del | XP_005274035.1:p.Glu280SerfsTer4 | |
| XM_005273979.3:c.834del | XP_005274036.1:p.Glu280SerfsTer4 | |
| XM_011544999.1:c.768del | XP_011543301.1:p.Glu258SerfsTer4 | |
| XM_011545000.1:c.834del | XP_011543302.1:p.Glu280SerfsTer4 | |
| XM_005273979.4:c.834del | XP_005274036.1:p.Glu280SerfsTer4 | |
| XM_011544999.2:c.768del | XP_011543301.1:p.Glu258SerfsTer4 | |
| XM_024448501.1:c.834del | XP_024304269.1:p.Glu280SerfsTer4 | |
| XM_024448502.1:c.834del | XP_024304270.1:p.Glu280SerfsTer4 | |
| XM_024448503.1:c.804del | XP_024304271.1:p.Glu270SerfsTer4 | |
| XM_024448504.1:c.768del | XP_024304272.1:p.Glu258SerfsTer4 | |
| XM_024448505.1:c.834del | XP_024304273.1:p.Glu280SerfsTer4 | |
| NM_001567.4:c.768del MANE Select | NP_001558.3:p.Glu258SerfsTer4 |