Linked Data
dbSNP Id:
rs748199567
ExAC:
1:92732219 G / GTAAC
gnomAD v2:
1-92732219-G-GTAAC
gnomAD v4:
1-92266662-G-GTAAC
MyVariant Identifiers:
chr1:g.92732219_92732220insTAAC (hg19)
chr1:g.92266662_92266663insTAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266664_92266667dup , CM000663.2:g.92266664_92266667dup | GRCh38 |
| NC_000001.10:g.92732221_92732224dup , CM000663.1:g.92732221_92732224dup | GRCh37 |
| NC_000001.9:g.92504809_92504812dup | NCBI36 |
| NG_009796.1:g.37344_37347dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1140+34_1140+37dup MANE Select | ENSP00000359385.3:n.1140+34_1140+37dup | |
| ENST00000370360.7:c.1140+34_1140+37dup | ENSP00000359385.3:n.1140+34_1140+37dup | |
| ENST00000463560.1:c.508+34_508+37dup | ||
| ENST00000495106.5:c.1140+34_1140+37dup | ENSP00000436829.1:n.1140+34_1140+37dup | |
| ENST00000495852.6:c.364-174_364-171dup | ENSP00000469157.2:n.364-174_364-171dup | |
| NM_053274.2:c.1140+34_1140+37dup | NP_444504.1:n.1140+34_1140+37dup | |
| XM_005270400.1:c.1099-174_1099-171dup | XP_005270457.1:n.1099-174_1099-171dup | |
| XM_005270401.2:c.1014+34_1014+37dup | XP_005270458.1:n.1014+34_1014+37dup | |
| XM_006710309.1:c.639+34_639+37dup | XP_006710372.1:n.639+34_639+37dup | |
| XM_011540544.1:c.1140+34_1140+37dup | XP_011538846.1:n.1140+34_1140+37dup | |
| XM_011540545.1:c.1140+34_1140+37dup | XP_011538847.1:n.1140+34_1140+37dup | |
| XM_011540546.1:c.1140+34_1140+37dup | XP_011538848.1:n.1140+34_1140+37dup | |
| XR_946529.1:n.1255+34_1255+37dup | ||
| NM_001319683.1:c.1099-174_1099-171dup | NP_001306612.1:n.1099-174_1099-171dup | |
| NR_135089.1:n.1255+34_1255+37dup | ||
| XM_005270401.3:c.1014+34_1014+37dup | XP_005270458.1:n.1014+34_1014+37dup | |
| XM_006710309.2:c.639+34_639+37dup | XP_006710372.1:n.639+34_639+37dup | |
| XM_011540546.2:c.1140+34_1140+37dup | XP_011538848.1:n.1140+34_1140+37dup | |
| XM_017000137.1:c.1239+34_1239+37dup | XP_016855626.1:n.1239+34_1239+37dup | |
| XM_017000138.1:c.1198-174_1198-171dup | XP_016855627.1:n.1198-174_1198-171dup | |
| XM_017000139.1:c.1239+34_1239+37dup | XP_016855628.1:n.1239+34_1239+37dup | |
| XM_017000140.1:c.1113+34_1113+37dup | XP_016855629.1:n.1113+34_1113+37dup | |
| XM_017000141.1:c.1140+34_1140+37dup | XP_016855630.1:n.1140+34_1140+37dup | |
| XM_017000142.1:c.598-174_598-171dup | XP_016855631.1:n.598-174_598-171dup | |
| XM_017000143.1:c.598-174_598-171dup | XP_016855632.1:n.598-174_598-171dup | |
| XM_017000144.1:c.369+34_369+37dup | XP_016855633.1:n.369+34_369+37dup | |
| XR_002959248.1:n.1623+34_1623+37dup | ||
| XR_002959249.1:n.1255+34_1255+37dup | ||
| NM_053274.3:c.1140+34_1140+37dup MANE Select | NP_444504.1:n.1140+34_1140+37dup | |
| NM_001319683.2:c.1099-174_1099-171dup | NP_001306612.1:n.1099-174_1099-171dup | |
| NR_135089.2:n.1233+34_1233+37dup |