Linked Data
ClinVar Variation Id:
7518
ClinVar RCV Id:
RCV000007951
dbSNP Id:
rs1554372074
PubMed:
PMID:9539740
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92504739_92504897del , CM000669.2:g.92504739_92504897del | GRCh38 |
| NC_000007.13:g.92134053_92134211del , CM000669.1:g.92134053_92134211del | GRCh37 |
| NC_000007.12:g.91971989_91972147del | NCBI36 |
| NG_008341.1:g.28635_28793del | |
| NG_008341.2:g.28635_28793del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1906_2064del MANE Select | ENSP00000248633.4:p.Arg636_Leu688del | |
| ENST00000248633.8:c.1906_2064del | ENSP00000248633.4:p.Arg636_Leu688del | |
| ENST00000428214.5:c.1900+1351_1900+1509del | ENSP00000394413.1:n.1900+1351_1900+1509de... | |
| ENST00000438045.5:c.940_1098del | ENSP00000410438.1:p.Arg314_Leu366del | |
| ENST00000484913.5:n.1945_2103del | ||
| ENST00000496420.5:n.1582_1740del | ||
| NM_000466.2:c.1906_2064del | NP_000457.1:p.Arg636_Leu688del | |
| NM_001282677.1:c.1900+1351_1900+1509del | NP_001269606.1:n.1900+1351_1900+1509del | |
| NM_001282678.1:c.1282_1440del | NP_001269607.1:p.Arg428_Leu480del | |
| XM_005250433.3:c.157_315del | XP_005250490.1:p.Arg53_Leu105del | |
| XR_242246.3:n.2002_2160del | ||
| XM_017012319.2:c.157_315del | XP_016867808.1:p.Arg53_Leu105del | |
| XR_001744808.2:n.933_1091del | ||
| XR_242246.5:n.1953_2111del | ||
| NM_000466.3:c.1906_2064del MANE Select | NP_000457.1:p.Arg636_Leu688del | |
| NM_001282677.2:c.1900+1351_1900+1509del | NP_001269606.1:n.1900+1351_1900+1509del | |
| NM_001282678.2:c.1282_1440del | NP_001269607.1:p.Arg428_Leu480del |