ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43094834_43094835del , CM000679.2:g.43094834_43094835del | GRCh38 |
| NC_000017.10:g.41246851_41246852del , CM000679.1:g.41246851_41246852del | GRCh37 |
| NC_000017.9:g.38500377_38500378del | NCBI36 |
| NG_005905.2:g.123150_123151del , LRG_292:g.123150_123151del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.761_762del | ||
| ENST00000461574.2:c.697_698del | ENSP00000417241.2:p.Val233AsnfsTer4 | |
| ENST00000470026.6:c.697_698del | ENSP00000419274.2:p.Val233AsnfsTer4 | |
| ENST00000473961.6:c.571_572del | ENSP00000420201.2:p.Val191AsnfsTer4 | |
| ENST00000476777.6:c.694_695del | ENSP00000417554.2:p.Val232AsnfsTer4 | |
| ENST00000477152.6:c.619_620del | ENSP00000419988.2:p.Val207AsnfsTer4 | |
| ENST00000478531.6:c.694_695del | ENSP00000420412.2:p.Val232AsnfsTer4 | |
| ENST00000489037.2:c.619_620del | ENSP00000420781.2:p.Val207AsnfsTer4 | |
| ENST00000493919.6:c.556_557del | ENSP00000418819.2:p.Val186AsnfsTer4 | |
| ENST00000494123.6:c.697_698del | ENSP00000419103.2:p.Val233AsnfsTer4 | |
| ENST00000497488.2:c.-192_-191del | ENSP00000418986.2:n.-192_-191del | |
| ENST00000618469.2:c.697_698del | ENSP00000478114.2:p.Val233AsnfsTer4 | |
| ENST00000634433.2:c.574_575del | ENSP00000489431.2:p.Val192AsnfsTer4 | |
| ENST00000644379.2:c.697_698del | ENSP00000496570.2:p.Val233AsnfsTer4 | |
| ENST00000644555.2:c.556_557del | ENSP00000494614.2:p.Val186AsnfsTer4 | |
| ENST00000652672.2:c.556_557del | ENSP00000498906.2:p.Val186AsnfsTer4 | |
| ENST00000484087.6:c.574_575del | ENSP00000419481.2:p.Val192AsnfsTer4 | |
| ENST00000700182.1:c.616_617del | ENSP00000514849.1:p.Val206AsnfsTer4 | |
| ENST00000700183.1:c.*705_*706del | ENSP00000514850.1:n.*705_*706del | |
| ENST00000357654.9:c.697_698del MANE Select | ENSP00000350283.3:p.Val233AsnfsTer4 | |
| ENST00000471181.7:c.697_698del | ENSP00000418960.2:p.Val233AsnfsTer4 | |
| ENST00000642945.1:c.*571_*572del | ENSP00000495897.1:n.*571_*572del | |
| ENST00000652672.1:c.556_557del | ENSP00000498906.1:p.Val186AsnfsTer4 | |
| ENST00000352993.7:c.670+1012_670+1013del | ENSP00000312236.5:n.670+1012_670+1013del | |
| ENST00000354071.7:c.697_698del | ENSP00000326002.7:p.Val233AsnfsTer4 | |
| ENST00000357654.7:c.697_698del | ENSP00000350283.3:p.Val233AsnfsTer4 | |
| ENST00000412061.3:c.48_49del | ||
| ENST00000461221.5:c.*480_*481del | ENSP00000418548.1:n.*480_*481del | |
| ENST00000468300.5:c.697_698del | ENSP00000417148.1:p.Val233AsnfsTer4 | |
| ENST00000470026.5:c.697_698del | ENSP00000419274.1:p.Val233AsnfsTer4 | |
| ENST00000471181.6:c.697_698del | ENSP00000418960.2:p.Val233AsnfsTer4 | |
| ENST00000473961.5:c.294_295del | ||
| ENST00000477152.5:c.619_620del | ENSP00000419988.1:p.Val207AsnfsTer4 | |
| ENST00000478531.5:c.694_695del | ENSP00000420412.1:p.Val232AsnfsTer4 | |
| ENST00000484087.5:c.319_320del | ENSP00000419481.1:p.Val107AsnfsTer4 | |
| ENST00000487825.5:c.322_323del | ENSP00000418212.1:p.Val108AsnfsTer4 | |
| ENST00000491747.6:c.697_698del | ENSP00000420705.2:p.Val233AsnfsTer4 | |
| ENST00000492859.5:c.*633_*634del | ENSP00000420253.1:n.*633_*634del | |
| ENST00000493795.5:c.556_557del | ENSP00000418775.1:p.Val186AsnfsTer4 | |
| ENST00000493919.5:c.556_557del | ENSP00000418819.1:p.Val186AsnfsTer4 | |
| ENST00000494123.5:c.697_698del | ENSP00000419103.1:p.Val233AsnfsTer4 | |
| ENST00000497488.1:c.-192_-191del | ENSP00000418986.1:n.-192_-191del | |
| ENST00000586385.5:c.4+30348_4+30349del | ENSP00000465818.1:n.4+30348_4+30349del | |
| ENST00000591534.5:c.-43-20313_-43-20312del | ENSP00000467329.1:n.-43-20313_-43-20312del | |
| ENST00000591849.5:c.-99+30437_-99+30438del | ENSP00000465347.1:n.-99+30437_-99+30438del | |
| ENST00000634433.1:c.574_575del | ENSP00000489431.1:p.Val192AsnfsTer4 | |
| NM_007294.3:c.697_698del , LRG_292t1:c.697_698del | NP_009225.1:p.Val233AsnfsTer4 | |
| NM_007297.3:c.556_557del | NP_009228.2:p.Val186AsnfsTer4 | |
| NM_007298.3:c.697_698del | NP_009229.2:p.Val233AsnfsTer4 | |
| NM_007299.3:c.697_698del | NP_009230.2:p.Val233AsnfsTer4 | |
| NM_007300.3:c.697_698del | NP_009231.2:p.Val233AsnfsTer4 | |
| NR_027676.1:n.833_834del | ||
| NM_007294.4:c.697_698del MANE Select | NP_009225.1:p.Val233AsnfsTer4 | |
| NM_007297.4:c.556_557del | NP_009228.2:p.Val186AsnfsTer4 | |
| NM_007299.4:c.697_698del | NP_009230.2:p.Val233AsnfsTer4 | |
| NM_007300.4:c.697_698del | NP_009231.2:p.Val233AsnfsTer4 | |
| NR_027676.2:n.874_875del |