Linked Data
ClinVar Variation Id:
2787758
ClinVar RCV Id:
RCV003671634
dbSNP Id:
rs1353116494
gnomAD v2:
19-45856084-AGAG-A
gnomAD v4:
19-45352826-AGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352830_45352832del , CM000681.2:g.45352830_45352832del | GRCh38 |
| NC_000019.9:g.45856088_45856090del , CM000681.1:g.45856088_45856090del | GRCh37 |
| NC_000019.8:g.50547928_50547930del | NCBI36 |
| NG_007067.2:g.22759_22761del , LRG_461:g.22759_22761del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1832-13_1832-11del | ENSP00000375808.4:n.1832-13_1832-11del | |
| ENST00000682414.1:c.1832-13_1832-11del | ENSP00000507019.1:n.1832-13_1832-11del | |
| ENST00000682508.1:n.1861-13_1861-11del | ||
| ENST00000684218.1:c.*1090-13_*1090-11del | ENSP00000507804.1:n.*1090-13_*1090-11del | |
| ENST00000684264.1:n.1388-13_1388-11del | ||
| ENST00000684407.1:c.1709-13_1709-11del | ENSP00000507775.1:n.1709-13_1709-11del | |
| ENST00000684458.1:c.*318-13_*318-11del | ENSP00000508260.1:n.*318-13_*318-11del | |
| ENST00000684468.1:n.1544-13_1544-11del | ||
| ENST00000391945.10:c.1832-13_1832-11del MANE Select | ENSP00000375809.4:n.1832-13_1832-11del | |
| ENST00000646507.1:n.1929-13_1929-11del | ||
| ENST00000391941.6:c.1760-13_1760-11del | ENSP00000375805.2:n.1760-13_1760-11del | |
| ENST00000391942.6:n.1003-13_1003-11del | ||
| ENST00000391944.7:c.1598-13_1598-11del | ENSP00000375808.3:n.1598-13_1598-11del | |
| ENST00000391945.8:c.1832-13_1832-11del | ENSP00000375809.3:n.1832-13_1832-11del | |
| ENST00000588652.5:n.1920-13_1920-11del | ||
| NM_000400.3:c.1832-13_1832-11del , LRG_461t1:c.1832-13_1832-11del | NP_000391.1:n.1832-13_1832-11del | |
| XM_011526611.1:c.1754-13_1754-11del | XP_011524913.1:n.1754-13_1754-11del | |
| XM_011526611.2:c.1754-13_1754-11del | XP_011524913.1:n.1754-13_1754-11del | |
| XM_017026467.1:c.1709-13_1709-11del | XP_016881956.1:n.1709-13_1709-11del | |
| XR_001753633.2:n.1879-13_1879-11del | ||
| XR_001753634.2:n.1815-13_1815-11del | ||
| NM_000400.4:c.1832-13_1832-11del MANE Select | NP_000391.1:n.1832-13_1832-11del |