Linked Data
ClinVar Variation Id:
125625
ClinVar RCV Id:
RCV000112064
RCV000129448
RCV000677819
RCV001169843
RCV000590069
RCV001089174
RCV003226197
dbSNP Id:
rs80357575
ExAC:
17:41244218 CTTT / C
gnomAD v2:
17-41244218-CTTT-C
gnomAD v3:
17-43092201-CTTT-C
gnomAD v4:
17-43092201-CTTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43092205_43092207del , CM000679.2:g.43092205_43092207del | GRCh38 |
| NC_000017.10:g.41244222_41244224del , CM000679.1:g.41244222_41244224del | GRCh37 |
| NC_000017.9:g.38497748_38497750del | NCBI36 |
| NG_005905.2:g.125780_125782del , LRG_292:g.125780_125782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.3391_3393del | ||
| ENST00000461574.2:c.3327_3329del | ENSP00000417241.2:p.Lys1110del | |
| ENST00000470026.6:c.3327_3329del | ENSP00000419274.2:p.Lys1110del | |
| ENST00000473961.6:c.3201_3203del | ENSP00000420201.2:p.Lys1068del | |
| ENST00000476777.6:c.3324_3326del | ENSP00000417554.2:p.Lys1109del | |
| ENST00000477152.6:c.3249_3251del | ENSP00000419988.2:p.Lys1084del | |
| ENST00000478531.6:c.785-1172_785-1170del | ENSP00000420412.2:n.785-1172_785-1170del | |
| ENST00000489037.2:c.3249_3251del | ENSP00000420781.2:p.Lys1084del | |
| ENST00000493919.6:c.647-1172_647-1170del | ENSP00000418819.2:n.647-1172_647-1170del | |
| ENST00000494123.6:c.3327_3329del | ENSP00000419103.2:p.Lys1110del | |
| ENST00000497488.2:c.2439_2441del | ENSP00000418986.2:p.Lys814del | |
| ENST00000618469.2:c.3327_3329del | ENSP00000478114.2:p.Lys1110del | |
| ENST00000634433.2:c.3204_3206del | ENSP00000489431.2:p.Lys1069del | |
| ENST00000644379.2:c.3327_3329del | ENSP00000496570.2:p.Lys1110del | |
| ENST00000644555.2:c.647-1172_647-1170del | ENSP00000494614.2:n.647-1172_647-1170del | |
| ENST00000652672.2:c.3186_3188del | ENSP00000498906.2:p.Lys1063del | |
| ENST00000484087.6:c.665-1172_665-1170del | ENSP00000419481.2:n.665-1172_665-1170del | |
| ENST00000700182.1:c.707-1172_707-1170del | ENSP00000514849.1:n.707-1172_707-1170del | |
| ENST00000357654.9:c.3327_3329del MANE Select | ENSP00000350283.3:p.Lys1110del | |
| ENST00000471181.7:c.3327_3329del | ENSP00000418960.2:p.Lys1110del | |
| ENST00000352993.7:c.671-1172_671-1170del | ENSP00000312236.5:n.671-1172_671-1170del | |
| ENST00000354071.7:c.3327_3329del | ENSP00000326002.7:p.Lys1110del | |
| ENST00000357654.7:c.3327_3329del | ENSP00000350283.3:p.Lys1110del | |
| ENST00000461221.5:c.*3110_*3112del | ENSP00000418548.1:n.*3110_*3112del | |
| ENST00000468300.5:c.788-1172_788-1170del | ENSP00000417148.1:n.788-1172_788-1170del | |
| ENST00000471181.6:c.3327_3329del | ENSP00000418960.2:p.Lys1110del | |
| ENST00000478531.5:c.785-1172_785-1170del | ENSP00000420412.1:n.785-1172_785-1170del | |
| ENST00000484087.5:c.410-1172_410-1170del | ENSP00000419481.1:n.410-1172_410-1170del | |
| ENST00000487825.5:c.413-1172_413-1170del | ENSP00000418212.1:n.413-1172_413-1170del | |
| ENST00000491747.6:c.788-1172_788-1170del | ENSP00000420705.2:n.788-1172_788-1170del | |
| ENST00000493795.5:c.3186_3188del | ENSP00000418775.1:p.Lys1063del | |
| ENST00000493919.5:c.647-1172_647-1170del | ENSP00000418819.1:n.647-1172_647-1170del | |
| ENST00000586385.5:c.5-28253_5-28251del | ENSP00000465818.1:n.5-28253_5-28251del | |
| ENST00000591534.5:c.-43-17683_-43-17681del | ENSP00000467329.1:n.-43-17683_-43-17681del | |
| ENST00000591849.5:c.-99+33067_-99+33069del | ENSP00000465347.1:n.-99+33067_-99+33069del | |
| NM_007294.3:c.3327_3329del , LRG_292t1:c.3327_3329del | NP_009225.1:p.Lys1110del | |
| NM_007297.3:c.3186_3188del | NP_009228.2:p.Lys1063del | |
| NM_007298.3:c.788-1172_788-1170del | NP_009229.2:n.788-1172_788-1170del | |
| NM_007299.3:c.788-1172_788-1170del | NP_009230.2:n.788-1172_788-1170del | |
| NM_007300.3:c.3327_3329del | NP_009231.2:p.Lys1110del | |
| NR_027676.1:n.3463_3465del | ||
| NM_007294.4:c.3327_3329del MANE Select | NP_009225.1:p.Lys1110del | |
| NM_007297.4:c.3186_3188del | NP_009228.2:p.Lys1063del | |
| NM_007299.4:c.788-1172_788-1170del | NP_009230.2:n.788-1172_788-1170del | |
| NM_007300.4:c.3327_3329del | NP_009231.2:p.Lys1110del | |
| NR_027676.2:n.3504_3506del |