Linked Data
dbSNP Id:
rs1003886665
gnomAD v3:
7-44149220-C-CAGATA
gnomAD v4:
7-44149220-C-CAGATA
MyVariant Identifiers:
chr7:g.44188819_44188820insAGATA (hg19)
chr7:g.44149220_44149221insAGATA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149222_44149226dup , CM000669.2:g.44149222_44149226dup | GRCh38 |
| NC_000007.13:g.44188821_44188825dup , CM000669.1:g.44188821_44188825dup | GRCh37 |
| NC_000007.12:g.44155346_44155350dup | NCBI36 |
| NG_008847.1:g.45199_45203dup | |
| NG_008847.2:g.53946_53950dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*677+535_*677+539dup | ENSP00000379142.4:n.*677+535_*677+539dup | |
| ENST00000616242.5:c.679+535_679+539dup | ENSP00000482149.2:n.679+535_679+539dup | |
| ENST00000682635.1:n.1700_1704dup | ||
| ENST00000345378.7:c.682+535_682+539dup | ENSP00000223366.2:n.682+535_682+539dup | |
| ENST00000403799.8:c.679+535_679+539dup MANE Select | ENSP00000384247.3:n.679+535_679+539dup | |
| ENST00000671824.1:c.679+535_679+539dup | ENSP00000500264.1:n.679+535_679+539dup | |
| ENST00000673284.1:c.679+535_679+539dup | ENSP00000499852.1:n.679+535_679+539dup | |
| ENST00000345378.6:c.682+535_682+539dup | ENSP00000223366.2:n.682+535_682+539dup | |
| ENST00000395796.7:c.676+535_676+539dup | ENSP00000379142.3:n.676+535_676+539dup | |
| ENST00000403799.7:c.679+535_679+539dup | ENSP00000384247.3:n.679+535_679+539dup | |
| ENST00000437084.1:c.628+535_628+539dup | ENSP00000402840.1:n.628+535_628+539dup | |
| ENST00000616242.4:c.676+535_676+539dup | ENSP00000482149.1:n.676+535_676+539dup | |
| NM_000162.3:c.679+535_679+539dup | NP_000153.1:n.679+535_679+539dup | |
| NM_033507.1:c.682+535_682+539dup | NP_277042.1:n.682+535_682+539dup | |
| NM_033508.1:c.676+535_676+539dup | NP_277043.1:n.676+535_676+539dup | |
| XR_927223.1:n.134_138dup | ||
| NM_000162.4:c.679+535_679+539dup | NP_000153.1:n.679+535_679+539dup | |
| NM_001354800.1:c.679+535_679+539dup | NP_001341729.1:n.679+535_679+539dup | |
| NM_033507.2:c.682+535_682+539dup | NP_277042.1:n.682+535_682+539dup | |
| NM_033508.2:c.676+535_676+539dup | NP_277043.1:n.676+535_676+539dup | |
| XR_927223.2:n.134_138dup | ||
| NM_000162.5:c.679+535_679+539dup MANE Select | NP_000153.1:n.679+535_679+539dup | |
| NM_033507.3:c.682+535_682+539dup | NP_277042.1:n.682+535_682+539dup | |
| NM_033508.3:c.676+535_676+539dup | NP_277043.1:n.676+535_676+539dup |