Linked Data
dbSNP Id:
rs1383264877
gnomAD v2:
15-91509574-C-CAAAG
gnomAD v3:
15-90966344-C-CAAAG
gnomAD v4:
15-90966344-C-CAAAG
MyVariant Identifiers:
chr15:g.91509574_91509575insAAAG (hg19)
chr15:g.90966344_90966345insAAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966346_90966349dup , CM000677.2:g.90966346_90966349dup | GRCh38 |
| NC_000015.9:g.91509576_91509579dup , CM000677.1:g.91509576_91509579dup | GRCh37 |
| NC_000015.8:g.89310580_89310583dup | NCBI36 |
| NG_050647.1:g.33304_33307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*783_*786dup MANE Select | ENSP00000377793.3:n.*783_*786dup | |
| ENST00000643536.1:c.*4408_*4411dup | ENSP00000494429.1:n.*4408_*4411dup | |
| ENST00000361188.9:c.*783_*786dup | ENSP00000354679.5:n.*783_*786dup | |
| ENST00000394249.7:c.*783_*786dup | ENSP00000377793.3:n.*783_*786dup | |
| ENST00000556972.6:c.430_433dup | ENSP00000456737.1:n.430_433dup | |
| NM_001267580.1:c.*826_*829dup | NP_001254509.1:n.*826_*829dup | |
| NM_003981.3:c.*783_*786dup | NP_003972.1:n.*783_*786dup | |
| NM_199413.2:c.*783_*786dup | NP_955445.1:n.*783_*786dup | |
| XM_005254987.1:c.*826_*829dup | XP_005255044.1:n.*826_*829dup | |
| XM_006720759.1:c.*877_*880dup | XP_006720822.1:n.*877_*880dup | |
| XM_006720760.1:c.*289_*292dup | XP_006720823.1:n.*289_*292dup | |
| XM_011522187.1:c.*231_*234dup | XP_011520489.1:n.*231_*234dup | |
| XM_011522188.1:c.*231_*234dup | XP_011520490.1:n.*231_*234dup | |
| XM_011522189.1:c.*231_*234dup | XP_011520491.1:n.*231_*234dup | |
| XM_011522190.1:c.*231_*234dup | XP_011520492.1:n.*231_*234dup | |
| XM_011522192.1:c.*231_*234dup | XP_011520494.1:n.*231_*234dup | |
| XM_005254987.3:c.*826_*829dup | XP_005255044.1:n.*826_*829dup | |
| XM_006720759.2:c.*877_*880dup | XP_006720822.1:n.*877_*880dup | |
| XM_006720760.2:c.*289_*292dup | XP_006720823.1:n.*289_*292dup | |
| XM_011522187.2:c.*231_*234dup | XP_011520489.1:n.*231_*234dup | |
| XM_011522188.3:c.*231_*234dup | XP_011520490.1:n.*231_*234dup | |
| XM_011522189.2:c.*231_*234dup | XP_011520491.1:n.*231_*234dup | |
| XM_011522191.3:c.*328_*331dup | XP_011520493.1:n.*328_*331dup | |
| XM_011522192.2:c.*231_*234dup | XP_011520494.1:n.*231_*234dup | |
| XM_017022712.2:c.*783_*786dup | XP_016878201.1:n.*783_*786dup | |
| XM_017022713.2:c.*783_*786dup | XP_016878202.1:n.*783_*786dup | |
| XM_017022715.2:c.*783_*786dup | XP_016878204.1:n.*783_*786dup | |
| XM_017022716.2:c.*783_*786dup | XP_016878205.1:n.*783_*786dup | |
| XM_017022717.1:c.*826_*829dup | XP_016878206.1:n.*826_*829dup | |
| NM_003981.4:c.*783_*786dup MANE Select | NP_003972.2:n.*783_*786dup | |
| NM_001267580.2:c.*826_*829dup | NP_001254509.2:n.*826_*829dup | |
| NM_199413.3:c.*783_*786dup | NP_955445.2:n.*783_*786dup |