Linked Data
gnomAD v3:
7-44146274-G-GGCCCCGCCCACTCCCCCGCCCCCTGT
gnomAD v4:
7-44146274-G-GGCCCCGCCCACTCCCCCGCCCCCTGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146284_44146309dup , CM000669.2:g.44146284_44146309dup | GRCh38 |
| NC_000007.13:g.44185883_44185908dup , CM000669.1:g.44185883_44185908dup | GRCh37 |
| NC_000007.12:g.44152408_44152433dup | NCBI36 |
| NG_008847.1:g.48124_48149dup | |
| NG_008847.2:g.56871_56896dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1017+163_*1017+188dup | ENSP00000379142.4:n.*1017+163_*1017+188dup | |
| ENST00000616242.5:c.*139+163_*139+188dup | ENSP00000482149.2:n.*139+163_*139+188dup | |
| ENST00000683378.1:n.245+163_245+188dup | ||
| ENST00000345378.7:c.1022+163_1022+188dup | ENSP00000223366.2:n.1022+163_1022+188dup | |
| ENST00000403799.8:c.1019+163_1019+188dup MANE Select | ENSP00000384247.3:n.1019+163_1019+188dup | |
| ENST00000671824.1:c.1082+163_1082+188dup | ENSP00000500264.1:n.1082+163_1082+188dup | |
| ENST00000673284.1:c.1019+163_1019+188dup | ENSP00000499852.1:n.1019+163_1019+188dup | |
| ENST00000345378.6:c.1022+163_1022+188dup | ENSP00000223366.2:n.1022+163_1022+188dup | |
| ENST00000395796.7:c.1016+163_1016+188dup | ENSP00000379142.3:n.1016+163_1016+188dup | |
| ENST00000403799.7:c.1019+163_1019+188dup | ENSP00000384247.3:n.1019+163_1019+188dup | |
| ENST00000437084.1:c.968+163_968+188dup | ENSP00000402840.1:n.968+163_968+188dup | |
| ENST00000473353.1:n.317+163_317+188dup | ||
| ENST00000616242.4:c.1016+163_1016+188dup | ENSP00000482149.1:n.1016+163_1016+188dup | |
| NM_000162.3:c.1019+163_1019+188dup | NP_000153.1:n.1019+163_1019+188dup | |
| NM_033507.1:c.1022+163_1022+188dup | NP_277042.1:n.1022+163_1022+188dup | |
| NM_033508.1:c.1016+163_1016+188dup | NP_277043.1:n.1016+163_1016+188dup | |
| NM_000162.4:c.1019+163_1019+188dup | NP_000153.1:n.1019+163_1019+188dup | |
| NM_001354800.1:c.1019+163_1019+188dup | NP_001341729.1:n.1019+163_1019+188dup | |
| NM_001354801.1:c.8+319_8+344dup | NP_001341730.1:n.8+319_8+344dup | |
| NM_033507.2:c.1022+163_1022+188dup | NP_277042.1:n.1022+163_1022+188dup | |
| NM_033508.2:c.1016+163_1016+188dup | NP_277043.1:n.1016+163_1016+188dup | |
| NM_000162.5:c.1019+163_1019+188dup MANE Select | NP_000153.1:n.1019+163_1019+188dup | |
| NM_033507.3:c.1022+163_1022+188dup | NP_277042.1:n.1022+163_1022+188dup | |
| NM_033508.3:c.1016+163_1016+188dup | NP_277043.1:n.1016+163_1016+188dup |