Linked Data
dbSNP Id:
rs1180369966
gnomAD v4:
11-14879418-TAAATC-T
MyVariant Identifiers:
chr11:g.14879419_14879423del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.14879421_14879425del , CM000673.2:g.14879421_14879425del | GRCh38 |
| NC_000011.9:g.14900967_14900971del , CM000673.1:g.14900967_14900971del | GRCh37 |
| NC_000011.8:g.14857543_14857547del | NCBI36 |
| NG_007936.1:g.17783_17787del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334636.10:c.1021_1025del MANE Select | ENSP00000334592.5:p.Asp341AsnfsTer5 | |
| ENST00000334636.9:c.1021_1025del | ENSP00000334592.5:p.Asp341AsnfsTer5 | |
| ENST00000525015.1:c.67-216_67-212del | ||
| ENST00000530609.5:c.*617_*621del | ENSP00000466060.1:n.*617_*621del | |
| ENST00000532378.5:c.322_326del | ENSP00000435484.1:p.Asp108AsnfsTer5 | |
| ENST00000532805.1:c.*353-224_*353-220del | ENSP00000465097.1:n.*353-224_*353-220del | |
| ENST00000534686.5:c.*597-216_*597-212del | ENSP00000432087.2:n.*597-216_*597-212del | |
| NM_024514.4:c.1021_1025del | NP_078790.2:p.Asp341AsnfsTer5 | |
| XM_005252788.1:c.877_881del | XP_005252845.1:p.Asp293AsnfsTer5 | |
| XM_005252789.2:c.859_863del | XP_005252846.1:p.Asp287AsnfsTer5 | |
| XM_005252791.3:c.676_680del | XP_005252848.1:p.Asp226AsnfsTer5 | |
| XM_006718142.2:c.976_980del | XP_006718205.1:p.Asp326AsnfsTer5 | |
| XM_011519894.1:c.676_680del | XP_011518196.1:p.Asp226AsnfsTer5 | |
| XM_011519895.1:c.676_680del | XP_011518197.1:p.Asp226AsnfsTer5 | |
| XM_011519896.1:c.676_680del | XP_011518198.1:p.Asp226AsnfsTer5 | |
| XM_011519897.1:c.676_680del | XP_011518199.1:p.Asp226AsnfsTer5 | |
| XM_011519898.1:c.676_680del | XP_011518200.1:p.Asp226AsnfsTer5 | |
| XR_242777.2:n.1054-216_1054-212del | ||
| XM_005252788.2:c.877_881del | XP_005252845.1:p.Asp293AsnfsTer5 | |
| XM_005252789.3:c.859_863del | XP_005252846.1:p.Asp287AsnfsTer5 | |
| XM_011519895.2:c.676_680del | XP_011518197.1:p.Asp226AsnfsTer5 | |
| XM_011519898.3:c.676_680del | XP_011518200.1:p.Asp226AsnfsTer5 | |
| XM_017017190.2:c.856_860del | XP_016872679.1:p.Asp286AsnfsTer5 | |
| XM_017017191.2:c.676_680del | XP_016872680.1:p.Asp226AsnfsTer5 | |
| XM_017017192.2:c.676_680del | XP_016872681.1:p.Asp226AsnfsTer5 | |
| XM_017017193.2:c.676_680del | XP_016872682.1:p.Asp226AsnfsTer5 | |
| XM_017017194.2:c.676_680del | XP_016872683.1:p.Asp226AsnfsTer5 | |
| XM_024448345.1:c.856_860del | XP_024304113.1:p.Asp286AsnfsTer5 | |
| XM_024448346.1:c.676_680del | XP_024304114.1:p.Asp226AsnfsTer5 | |
| XM_024448347.1:c.676_680del | XP_024304115.1:p.Asp226AsnfsTer5 | |
| XM_024448348.1:c.676_680del | XP_024304116.1:p.Asp226AsnfsTer5 | |
| XR_002957123.1:n.1017-216_1017-212del | ||
| XR_002957124.1:n.1283-216_1283-212del | ||
| XR_242777.3:n.1054-216_1054-212del | ||
| NM_001377214.1:c.676_680del | NP_001364143.1:p.Asp226AsnfsTer5 | |
| NM_001377215.1:c.676_680del | NP_001364144.1:p.Asp226AsnfsTer5 | |
| NM_001377216.1:c.676_680del | NP_001364145.1:p.Asp226AsnfsTer5 | |
| NM_001377217.1:c.859_863del | NP_001364146.1:p.Asp287AsnfsTer5 | |
| NM_001377227.1:c.676_680del | NP_001364156.1:p.Asp226AsnfsTer5 | |
| NM_024514.5:c.1021_1025del MANE Select | NP_078790.2:p.Asp341AsnfsTer5 | |
| NM_001400558.1:c.676_680del | NP_001387487.1:p.Asp226AsnfsTer5 | |
| NM_001400559.1:c.676_680del | NP_001387488.1:p.Asp226AsnfsTer5 | |
| NM_001400560.1:c.676_680del | NP_001387489.1:p.Asp226AsnfsTer5 | |
| NM_001400561.1:c.676_680del | NP_001387490.1:p.Asp226AsnfsTer5 | |
| NM_001400562.1:c.322_326del | NP_001387491.1:p.Asp108AsnfsTer5 | |
| NM_001400563.1:c.322_326del | NP_001387492.1:p.Asp108AsnfsTer5 | |
| NM_001400564.1:c.322_326del | NP_001387493.1:p.Asp108AsnfsTer5 | |
| NM_001400565.1:c.322_326del | NP_001387494.1:p.Asp108AsnfsTer5 | |
| NM_001400566.1:c.43_47del | NP_001387495.1:p.Asp15AsnfsTer5 | |
| NM_001400567.1:c.877_881del | NP_001387496.1:p.Asp293AsnfsTer5 | |
| NM_001400568.1:c.976_980del | NP_001387497.1:p.Asp326AsnfsTer5 | |
| NR_174512.1:n.1104-216_1104-212del | ||
| NR_174513.1:n.953-216_953-212del | ||
| NR_174514.1:n.1328-216_1328-212del | ||
| NR_174515.1:n.1737-216_1737-212del | ||
| NR_174516.1:n.915-216_915-212del | ||
| NR_174517.1:n.451-216_451-212del | ||
| NR_174518.1:n.1548-216_1548-212del | ||
| NR_174519.1:n.1295-216_1295-212del | ||
| NR_174520.1:n.1086-216_1086-212del | ||
| NR_174521.1:n.1586-216_1586-212del | ||
| NR_174522.1:n.1084-216_1084-212del | ||
| NR_174523.1:n.1495-216_1495-212del |