Linked Data
dbSNP Id:
rs1428602658
gnomAD v3:
7-83981004-T-TATTA
gnomAD v4:
7-83981004-T-TATTA
MyVariant Identifiers:
chr7:g.83610320_83610321insATTA (hg19)
chr7:g.83981004_83981005insATTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.83981006_83981009dup , CM000669.2:g.83981006_83981009dup | GRCh38 |
| NC_000007.13:g.83610322_83610325dup , CM000669.1:g.83610322_83610325dup | GRCh37 |
| NC_000007.12:g.83448258_83448261dup | NCBI36 |
| NG_011489.1:g.218894_218897dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265362.9:c.1652+313_1652+316dup MANE Select | ENSP00000265362.3:n.1652+313_1652+316dup | |
| ENST00000265362.8:c.1652+313_1652+316dup | ENSP00000265362.3:n.1652+313_1652+316dup | |
| ENST00000436949.5:c.1652+313_1652+316dup | ENSP00000415260.1:n.1652+313_1652+316dup | |
| NM_006080.2:c.1652+313_1652+316dup | NP_006071.1:n.1652+313_1652+316dup | |
| XM_005250110.2:c.1652+313_1652+316dup | XP_005250167.1:n.1652+313_1652+316dup | |
| XM_005250111.3:c.1652+313_1652+316dup | XP_005250168.1:n.1652+313_1652+316dup | |
| XM_006715839.2:c.1652+313_1652+316dup | XP_006715902.1:n.1652+313_1652+316dup | |
| XM_011515734.1:c.1652+313_1652+316dup | XP_011514036.1:n.1652+313_1652+316dup | |
| XM_011515735.1:c.1652+313_1652+316dup | XP_011514037.1:n.1652+313_1652+316dup | |
| XM_005250110.3:c.1652+313_1652+316dup | XP_005250167.1:n.1652+313_1652+316dup | |
| XM_005250111.4:c.1652+313_1652+316dup | XP_005250168.1:n.1652+313_1652+316dup | |
| XM_006715839.3:c.1652+313_1652+316dup | XP_006715902.1:n.1652+313_1652+316dup | |
| XM_011515734.3:c.1652+313_1652+316dup | XP_011514036.1:n.1652+313_1652+316dup | |
| XM_017011673.1:c.1652+313_1652+316dup | XP_016867162.1:n.1652+313_1652+316dup | |
| XM_024446633.1:c.1652+313_1652+316dup | XP_024302401.1:n.1652+313_1652+316dup | |
| NM_006080.3:c.1652+313_1652+316dup MANE Select | NP_006071.1:n.1652+313_1652+316dup |