Linked Data
dbSNP Id:
rs1408906933
gnomAD v2:
15-68628083-C-CAGGAACAGG
gnomAD v4:
15-68335745-C-CAGGAACAGG
MyVariant Identifiers:
chr15:g.68628083_68628084insAGGAACAGG (hg19)
chr15:g.68335745_68335746insAGGAACAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.68335746_68335747insGGAACAGGA , CM000677.2:g.68335746_68335747insGGAACAGGA | GRCh38 |
| NC_000015.9:g.68628084_68628085insGGAACAGGA , CM000677.1:g.68628084_68628085insGGAACAGGA | GRCh37 |
| NC_000015.8:g.66415138_66415139insGGAACAGGA | NCBI36 |
| NG_046911.1:g.101415_101416insCCTGTTCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315757.9:c.1376_1377insCCTGTTCCT MANE Select | ENSP00000327290.7:p.Met459delinsIleLeuPheLeu | |
| ENST00000315757.8:c.1376_1377insCCTGTTCCT | ENSP00000327290.7:p.Met459delinsIleLeuPheLeu | |
| ENST00000423218.6:c.1376_1377insCCTGTTCCT | ENSP00000403392.2:p.Met459delinsIleLeuPheLeu | |
| ENST00000566429.1:n.265_266insCCTGTTCCT | ||
| ENST00000569346.5:n.355_356insCCTGTTCCT | ||
| NM_001004439.1:c.1376_1377insCCTGTTCCT | NP_001004439.1:p.Met459delinsIleLeuPheLeu | |
| XM_005254228.2:c.1070_1071insCCTGTTCCT | XP_005254285.1:p.Met357delinsIleLeuPheLeu | |
| XM_011521363.1:c.1169_1170insCCTGTTCCT | XP_011519665.1:p.Met390delinsIleLeuPheLeu | |
| XM_005254228.3:c.1070_1071insCCTGTTCCT | XP_005254285.1:p.Met357delinsIleLeuPheLeu | |
| XM_011521363.2:c.1169_1170insCCTGTTCCT | XP_011519665.1:p.Met390delinsIleLeuPheLeu | |
| NM_001004439.2:c.1376_1377insCCTGTTCCT MANE Select | NP_001004439.1:p.Met459delinsIleLeuPheLeu |