Linked Data
ClinVar Variation Id:
555767
ClinVar RCV Id:
RCV000671647
dbSNP Id:
rs1555251980
gnomAD v4:
13-23337936-AGAG-A
MyVariant Identifiers:
chr13:g.23337937_23337939del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23337937_23337939del , CM000675.2:g.23337937_23337939del | GRCh38 |
| NC_000013.10:g.23912076_23912078del , CM000675.1:g.23912076_23912078del | GRCh37 |
| NC_000013.9:g.22810076_22810078del | NCBI36 |
| NG_012342.1:g.100764_100766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+15846_2185+15848del | ENSP00000508399.1:n.2185+15846_2185+15848del | |
| ENST00000682944.1:c.5964_5966del | ENSP00000507173.1:p.Ser1989del | |
| ENST00000683210.1:c.2185+15846_2185+15848del | ENSP00000506739.1:n.2185+15846_2185+15848del | |
| ENST00000683270.1:c.5928_5930del | ENSP00000507624.1:p.Ser1977del | |
| ENST00000683367.1:c.2177-8455_2177-8453del | ENSP00000507780.1:n.2177-8455_2177-8453del | |
| ENST00000683489.1:c.2291+3646_2291+3648del | ENSP00000508403.1:n.2291+3646_2291+3648del | |
| ENST00000683680.1:c.2318+3646_2318+3648del | ENSP00000507223.1:n.2318+3646_2318+3648del | |
| ENST00000684163.1:c.2204-8455_2204-8453del | ENSP00000508262.1:n.2204-8455_2204-8453del | |
| ENST00000684196.1:n.4543-8455_4543-8453del | ||
| ENST00000684325.1:c.2185+15846_2185+15848del | ENSP00000508121.1:n.2185+15846_2185+15848del | |
| ENST00000684385.1:c.2221-8455_2221-8453del | ENSP00000507855.1:n.2221-8455_2221-8453del | |
| ENST00000684497.1:c.2186-15295_2186-15293del | ENSP00000507057.1:n.2186-15295_2186-15293del | |
| ENST00000382292.9:c.5937_5939del MANE Select | ENSP00000371729.3:p.Ser1980del | |
| ENST00000423156.2:c.2186-8455_2186-8453del | ENSP00000390925.2:n.2186-8455_2186-8453del | |
| ENST00000455470.6:c.2431+3506_2431+3508del | ENSP00000406565.2:n.2431+3506_2431+3508del | |
| ENST00000382292.7:c.5937_5939del | ENSP00000371729.3:p.Ser1980del | |
| ENST00000382298.7:c.5937_5939del | ENSP00000371735.3:p.Ser1980del | |
| ENST00000402364.1:c.3687_3689del | ENSP00000385844.1:p.Ser1230del | |
| ENST00000423156.1:c.1058-8455_1058-8453del | ENSP00000390925.1:n.1058-8455_1058-8453del | |
| ENST00000455470.5:c.2129+3506_2129+3508del | ||
| NM_001278055.1:c.5496_5498del | NP_001264984.1:p.Ser1833del | |
| NM_014363.5:c.5937_5939del | NP_055178.3:p.Ser1980del | |
| XM_005266338.1:c.5964_5966del | XP_005266395.1:p.Ser1989del | |
| XM_011535038.1:c.5988_5990del | XP_011533340.1:p.Ser1997del | |
| XM_011535039.1:c.5955_5957del | XP_011533341.1:p.Ser1986del | |
| XM_005266338.2:c.5964_5966del | XP_005266395.1:p.Ser1989del | |
| XM_011535039.2:c.5955_5957del | XP_011533341.1:p.Ser1986del | |
| XM_017020539.1:c.5928_5930del | XP_016876028.1:p.Ser1977del | |
| XM_024449337.1:c.5964_5966del | XP_024305105.1:p.Ser1989del | |
| NM_014363.6:c.5937_5939del MANE Select | NP_055178.3:p.Ser1980del | |
| NM_001278055.2:c.5496_5498del | NP_001264984.1:p.Ser1833del |