Linked Data
dbSNP Id:
rs753812220
gnomAD v2:
1-223285130-A-AGTTTATTGCCACTCAAGAAGATAT
gnomAD v4:
1-223111788-A-AGTTTATTGCCACTCAAGAAGATAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.223111789_223111812dup , CM000663.2:g.223111789_223111812dup | GRCh38 |
| NC_000001.10:g.223285131_223285154dup , CM000663.1:g.223285131_223285154dup | GRCh37 |
| NC_000001.9:g.221351754_221351777dup | NCBI36 |
| NG_016244.1:g.36471_36494dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642603.2:c.1220_1243dup MANE Select | ENSP00000496355.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| ENST00000645434.1:c.1220_1243dup | ENSP00000493892.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| ENST00000366881.5:c.1220_1243dup | ENSP00000355846.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| ENST00000540964.5:c.1220_1243dup | ENSP00000440643.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| NM_003268.5:c.1220_1243dup | NP_003259.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273241.3:c.1220_1243dup | XP_005273298.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273242.3:c.1220_1243dup | XP_005273299.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273243.3:c.1220_1243dup | XP_005273300.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711504.2:c.1220_1243dup | XP_006711567.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711505.2:c.1220_1243dup | XP_006711568.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711506.2:c.1220_1243dup | XP_006711569.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_011509937.1:c.1220_1243dup | XP_011508239.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273241.4:c.1220_1243dup | XP_005273298.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273242.4:c.1220_1243dup | XP_005273299.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_005273243.4:c.1220_1243dup | XP_005273300.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711504.3:c.1220_1243dup | XP_006711567.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711505.3:c.1220_1243dup | XP_006711568.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_006711506.3:c.1220_1243dup | XP_006711569.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_011509937.2:c.1220_1243dup | XP_011508239.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| XM_017002208.1:c.1220_1243dup | XP_016857697.1:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys | |
| NM_003268.6:c.1220_1243dup MANE Select | NP_003259.2:p.Lys414_Leu415insHisIlePheLeuSerGlyAsnLys |