Linked Data
ClinVar Variation Id:
441011
ClinVar RCV Id:
RCV000509216
dbSNP Id:
rs757450051
ExAC:
7:24705665 CA / C
gnomAD v2:
7-24705665-CA-C
gnomAD v4:
7-24666046-CA-C
COSMIC:
COSM1450106
MyVariant Identifiers:
chr7:g.24705673del (hg19)
chr7:g.24705666del (hg19)
chr7:g.24666054del (hg38)
chr7:g.24666047del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24666054del , CM000669.2:g.24666054del | GRCh38 |
| NC_000007.13:g.24705673del , CM000669.1:g.24705673del | GRCh37 |
| NC_000007.12:g.24672198del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222644.10:c.917del MANE Select | ENSP00000222644.4:p.Lys306ArgfsTer4 | |
| ENST00000222644.9:c.917del | ENSP00000222644.4:p.Lys306ArgfsTer4 | |
| ENST00000396475.6:c.917del | ENSP00000379737.2:p.Lys306ArgfsTer4 | |
| ENST00000409761.5:c.581del | ENSP00000386262.1:p.Lys194ArgfsTer4 | |
| ENST00000430180.5:c.917del | ENSP00000391020.1:p.Lys306ArgfsTer? | |
| ENST00000464384.2:c.39del | ||
| NM_001303037.1:c.917del | NP_001289966.1:p.Lys306ArgfsTer4 | |
| NM_016447.3:c.917del | NP_057531.2:p.Lys306ArgfsTer4 | |
| XM_005249775.3:c.581del | XP_005249832.1:p.Lys194ArgfsTer4 | |
| XM_006715738.2:c.917del | XP_006715801.1:p.Lys306ArgfsTer4 | |
| XM_006715739.2:c.917del | XP_006715802.1:p.Lys306ArgfsTer4 | |
| XM_006715740.2:c.917del | XP_006715803.1:p.Lys306ArgfsTer4 | |
| XM_011515425.1:c.917del | XP_011513727.1:p.Lys306ArgfsTer4 | |
| XM_005249775.5:c.581del | XP_005249832.1:p.Lys194ArgfsTer4 | |
| XM_006715738.3:c.917del | XP_006715801.1:p.Lys306ArgfsTer4 | |
| XM_006715739.3:c.917del | XP_006715802.1:p.Lys306ArgfsTer4 | |
| XM_006715740.3:c.917del | XP_006715803.1:p.Lys306ArgfsTer4 | |
| XM_011515425.2:c.917del | XP_011513727.1:p.Lys306ArgfsTer4 | |
| XM_017012315.1:c.917del | XP_016867804.1:p.Lys306ArgfsTer4 | |
| XM_017012316.2:c.917del | XP_016867805.1:p.Lys306ArgfsTer4 | |
| XM_017012317.1:c.917del | XP_016867806.1:p.Lys306ArgfsTer4 | |
| NM_001303037.2:c.917del MANE Select | NP_001289966.1:p.Lys306ArgfsTer4 | |
| NM_016447.4:c.917del | NP_057531.2:p.Lys306ArgfsTer4 |