Linked Data
dbSNP Id:
rs749627783
gnomAD v2:
7-44188810-T-TGC
gnomAD v3:
7-44149211-T-TGC
gnomAD v4:
7-44149211-T-TGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44149214_44149215dup , CM000669.2:g.44149214_44149215dup | GRCh38 |
| NC_000007.13:g.44188813_44188814dup , CM000669.1:g.44188813_44188814dup | GRCh37 |
| NC_000007.12:g.44155338_44155339dup | NCBI36 |
| NG_008847.1:g.45211_45212dup | |
| NG_008847.2:g.53958_53959dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*677+547_*677+548dup | ENSP00000379142.4:n.*677+547_*677+548dup | |
| ENST00000616242.5:c.679+547_679+548dup | ENSP00000482149.2:n.679+547_679+548dup | |
| ENST00000682635.1:n.1712_1713dup | ||
| ENST00000345378.7:c.682+547_682+548dup | ENSP00000223366.2:n.682+547_682+548dup | |
| ENST00000403799.8:c.679+547_679+548dup MANE Select | ENSP00000384247.3:n.679+547_679+548dup | |
| ENST00000671824.1:c.679+547_679+548dup | ENSP00000500264.1:n.679+547_679+548dup | |
| ENST00000673284.1:c.679+547_679+548dup | ENSP00000499852.1:n.679+547_679+548dup | |
| ENST00000345378.6:c.682+547_682+548dup | ENSP00000223366.2:n.682+547_682+548dup | |
| ENST00000395796.7:c.676+547_676+548dup | ENSP00000379142.3:n.676+547_676+548dup | |
| ENST00000403799.7:c.679+547_679+548dup | ENSP00000384247.3:n.679+547_679+548dup | |
| ENST00000437084.1:c.628+547_628+548dup | ENSP00000402840.1:n.628+547_628+548dup | |
| ENST00000616242.4:c.676+547_676+548dup | ENSP00000482149.1:n.676+547_676+548dup | |
| NM_000162.3:c.679+547_679+548dup | NP_000153.1:n.679+547_679+548dup | |
| NM_033507.1:c.682+547_682+548dup | NP_277042.1:n.682+547_682+548dup | |
| NM_033508.1:c.676+547_676+548dup | NP_277043.1:n.676+547_676+548dup | |
| XR_927223.1:n.126_127dup | ||
| NM_000162.4:c.679+547_679+548dup | NP_000153.1:n.679+547_679+548dup | |
| NM_001354800.1:c.679+547_679+548dup | NP_001341729.1:n.679+547_679+548dup | |
| NM_033507.2:c.682+547_682+548dup | NP_277042.1:n.682+547_682+548dup | |
| NM_033508.2:c.676+547_676+548dup | NP_277043.1:n.676+547_676+548dup | |
| XR_927223.2:n.126_127dup | ||
| NM_000162.5:c.679+547_679+548dup MANE Select | NP_000153.1:n.679+547_679+548dup | |
| NM_033507.3:c.682+547_682+548dup | NP_277042.1:n.682+547_682+548dup | |
| NM_033508.3:c.676+547_676+548dup | NP_277043.1:n.676+547_676+548dup |