Linked Data
dbSNP Id:
rs1358635765
gnomAD v2:
19-45855766-TGTC-T
gnomAD v3:
19-45352508-TGTC-T
gnomAD v4:
19-45352508-TGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352510_45352512del , CM000681.2:g.45352510_45352512del | GRCh38 |
| NC_000019.9:g.45855768_45855770del , CM000681.1:g.45855768_45855770del | GRCh37 |
| NC_000019.8:g.50547608_50547610del | NCBI36 |
| NG_007067.2:g.23077_23079del , LRG_461:g.23077_23079del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000391944.8:c.2041_2043del | ENSP00000375808.4:p.Asp681del | |
| ENST00000682414.1:c.2041_2043del | ENSP00000507019.1:p.Asp681del | |
| ENST00000682508.1:n.2070_2072del | ||
| ENST00000684218.1:c.*1299_*1301del | ENSP00000507804.1:n.*1299_*1301del | |
| ENST00000684264.1:n.1597_1599del | ||
| ENST00000684407.1:c.1918_1920del | ENSP00000507775.1:p.Asp640del | |
| ENST00000684458.1:c.*527_*529del | ENSP00000508260.1:n.*527_*529del | |
| ENST00000684468.1:n.1753_1755del | ||
| ENST00000391945.10:c.2041_2043del MANE Select | ENSP00000375809.4:p.Asp681del | |
| ENST00000646507.1:n.2138_2140del | ||
| ENST00000391941.6:c.1969_1971del | ENSP00000375805.2:p.Asp657del | |
| ENST00000391942.6:n.1212_1214del | ||
| ENST00000391944.7:c.1807_1809del | ENSP00000375808.3:p.Asp603del | |
| ENST00000391945.8:c.2041_2043del | ENSP00000375809.3:p.Asp681del | |
| ENST00000588652.5:n.2129_2131del | ||
| NM_000400.3:c.2041_2043del , LRG_461t1:c.2041_2043del | NP_000391.1:p.Asp681del | |
| XM_011526611.1:c.1963_1965del | XP_011524913.1:p.Asp655del | |
| XM_011526611.2:c.1963_1965del | XP_011524913.1:p.Asp655del | |
| XM_017026467.1:c.1918_1920del | XP_016881956.1:p.Asp640del | |
| XR_001753633.2:n.2088_2090del | ||
| XR_001753634.2:n.2024_2026del | ||
| NM_000400.4:c.2041_2043del MANE Select | NP_000391.1:p.Asp681del |