Linked Data
ClinVar Variation Id:
55093
dbSNP Id:
rs80358341
gnomAD v2:
17-41243482-GATT-G
gnomAD v4:
17-43091465-GATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091469_43091471del , CM000679.2:g.43091469_43091471del | GRCh38 |
| NC_000017.10:g.41243486_41243488del , CM000679.1:g.41243486_41243488del | GRCh37 |
| NC_000017.9:g.38497012_38497014del | NCBI36 |
| NG_005905.2:g.126516_126518del , LRG_292:g.126516_126518del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4127_4129del | ||
| ENST00000461574.2:c.4063_4065del | ENSP00000417241.2:p.Asn1355del | |
| ENST00000470026.6:c.4063_4065del | ENSP00000419274.2:p.Asn1355del | |
| ENST00000473961.6:c.3937_3939del | ENSP00000420201.2:p.Asn1313del | |
| ENST00000476777.6:c.4060_4062del | ENSP00000417554.2:p.Asn1354del | |
| ENST00000477152.6:c.3985_3987del | ENSP00000419988.2:p.Asn1329del | |
| ENST00000478531.6:c.785-436_785-434del | ENSP00000420412.2:n.785-436_785-434del | |
| ENST00000489037.2:c.3985_3987del | ENSP00000420781.2:p.Asn1329del | |
| ENST00000493919.6:c.647-436_647-434del | ENSP00000418819.2:n.647-436_647-434del | |
| ENST00000494123.6:c.4063_4065del | ENSP00000419103.2:p.Asn1355del | |
| ENST00000497488.2:c.3175_3177del | ENSP00000418986.2:p.Asn1059del | |
| ENST00000618469.2:c.4063_4065del | ENSP00000478114.2:p.Asn1355del | |
| ENST00000634433.2:c.3940_3942del | ENSP00000489431.2:p.Asn1314del | |
| ENST00000644379.2:c.4063_4065del | ENSP00000496570.2:p.Asn1355del | |
| ENST00000644555.2:c.647-436_647-434del | ENSP00000494614.2:n.647-436_647-434del | |
| ENST00000652672.2:c.3922_3924del | ENSP00000498906.2:p.Asn1308del | |
| ENST00000484087.6:c.665-436_665-434del | ENSP00000419481.2:n.665-436_665-434del | |
| ENST00000700182.1:c.707-436_707-434del | ENSP00000514849.1:n.707-436_707-434del | |
| ENST00000357654.9:c.4063_4065del MANE Select | ENSP00000350283.3:p.Asn1355del | |
| ENST00000471181.7:c.4063_4065del | ENSP00000418960.2:p.Asn1355del | |
| ENST00000644379.1:c.384_386del | ||
| ENST00000352993.7:c.671-436_671-434del | ENSP00000312236.5:n.671-436_671-434del | |
| ENST00000354071.7:c.4063_4065del | ENSP00000326002.7:p.Asn1355del | |
| ENST00000357654.7:c.4063_4065del | ENSP00000350283.3:p.Asn1355del | |
| ENST00000461221.5:c.*3846_*3848del | ENSP00000418548.1:n.*3846_*3848del | |
| ENST00000461574.1:c.357_359del | ||
| ENST00000468300.5:c.788-436_788-434del | ENSP00000417148.1:n.788-436_788-434del | |
| ENST00000471181.6:c.4063_4065del | ENSP00000418960.2:p.Asn1355del | |
| ENST00000478531.5:c.785-436_785-434del | ENSP00000420412.1:n.785-436_785-434del | |
| ENST00000484087.5:c.410-436_410-434del | ENSP00000419481.1:n.410-436_410-434del | |
| ENST00000487825.5:c.413-436_413-434del | ENSP00000418212.1:n.413-436_413-434del | |
| ENST00000491747.6:c.788-436_788-434del | ENSP00000420705.2:n.788-436_788-434del | |
| ENST00000493795.5:c.3922_3924del | ENSP00000418775.1:p.Asn1308del | |
| ENST00000493919.5:c.647-436_647-434del | ENSP00000418819.1:n.647-436_647-434del | |
| ENST00000586385.5:c.5-27517_5-27515del | ENSP00000465818.1:n.5-27517_5-27515del | |
| ENST00000591534.5:c.-43-16947_-43-16945del | ENSP00000467329.1:n.-43-16947_-43-16945del | |
| ENST00000591849.5:c.-99+33803_-99+33805del | ENSP00000465347.1:n.-99+33803_-99+33805del | |
| NM_007294.3:c.4063_4065del , LRG_292t1:c.4063_4065del | NP_009225.1:p.Asn1355del | |
| NM_007297.3:c.3922_3924del | NP_009228.2:p.Asn1308del | |
| NM_007298.3:c.788-436_788-434del | NP_009229.2:n.788-436_788-434del | |
| NM_007299.3:c.788-436_788-434del | NP_009230.2:n.788-436_788-434del | |
| NM_007300.3:c.4063_4065del | NP_009231.2:p.Asn1355del | |
| NR_027676.1:n.4199_4201del | ||
| NM_007294.4:c.4063_4065del MANE Select | NP_009225.1:p.Asn1355del | |
| NM_007297.4:c.3922_3924del | NP_009228.2:p.Asn1308del | |
| NM_007299.4:c.788-436_788-434del | NP_009230.2:n.788-436_788-434del | |
| NM_007300.4:c.4063_4065del | NP_009231.2:p.Asn1355del | |
| NR_027676.2:n.4240_4242del |