Linked Data
ClinVar Variation Id:
420017
dbSNP Id:
rs1064794240
gnomAD v2:
5-125896785-ATT-A
gnomAD v4:
5-126561093-ATT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.126561094_126561095del , CM000667.2:g.126561094_126561095del | GRCh38 |
| NC_000005.9:g.125896786_125896787del , CM000667.1:g.125896786_125896787del | GRCh37 |
| NC_000005.8:g.125924685_125924686del | NCBI36 |
| NG_008600.2:g.39296_39297del | |
| NG_008600.3:g.39296_39297del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409134.8:c.901_902del MANE Select | ENSP00000387123.3:p.Asn301CysfsTer6 | |
| ENST00000458249.6:c.*810_*811del | ENSP00000403929.1:n.*810_*811del | |
| ENST00000497231.7:n.1328_1329del | ||
| ENST00000503281.6:c.490_491del | ||
| ENST00000509459.6:c.449_450del | ||
| ENST00000635851.1:c.899_900del | ||
| ENST00000636062.1:n.796_797del | ||
| ENST00000636225.1:c.*845_*846del | ENSP00000490797.1:n.*845_*846del | |
| ENST00000636286.1:n.619_620del | ||
| ENST00000636482.1:n.388_389del | ||
| ENST00000636743.1:c.781_782del | ENSP00000489725.1:p.Asn261CysfsTer6 | |
| ENST00000636808.1:c.*710_*711del | ENSP00000490833.1:n.*710_*711del | |
| ENST00000636872.1:c.1061_1062del | ENSP00000490919.1:n.1061_1062del | |
| ENST00000636879.1:c.946_947del | ENSP00000490811.1:p.Asn316CysfsTer6 | |
| ENST00000636886.1:c.700_701del | ENSP00000490371.1:p.Asn234CysfsTer6 | |
| ENST00000637206.1:c.901_902del | ENSP00000489895.1:p.Asn301CysfsTer5 | |
| ENST00000637272.1:c.901_902del | ENSP00000489686.1:p.Asn301CysfsTer4 | |
| ENST00000637292.1:c.456_457del | ||
| ENST00000637782.1:c.901_902del | ENSP00000490024.1:p.Asn301CysfsTer6 | |
| ENST00000637964.1:c.847_848del | ENSP00000490291.1:p.Asn283CysfsTer6 | |
| ENST00000638008.1:c.*745_*746del | ENSP00000490400.1:n.*745_*746del | |
| ENST00000409134.7:c.901_902del | ENSP00000387123.3:p.Asn301CysfsTer6 | |
| ENST00000447989.6:c.982_983del | ENSP00000414132.2:p.Asn328CysfsTer6 | |
| ENST00000497231.6:n.1111_1112del | ||
| ENST00000503281.5:c.490_491del | ||
| ENST00000509459.5:c.449_450del | ||
| ENST00000553117.5:c.901_902del | ENSP00000448593.1:p.Asn301CysfsTer6 | |
| NM_001182.4:c.901_902del | NP_001173.2:p.Asn301CysfsTer6 | |
| NM_001201377.1:c.817_818del | NP_001188306.1:p.Asn273CysfsTer6 | |
| NM_001202404.1:c.982_983del | NP_001189333.1:p.Asn328CysfsTer6 | |
| XM_011543417.1:c.496_497del | XP_011541719.1:p.Asn166CysfsTer6 | |
| XM_011543417.2:c.496_497del | XP_011541719.1:p.Asn166CysfsTer6 | |
| NM_001182.5:c.901_902del MANE Select | NP_001173.2:p.Asn301CysfsTer6 | |
| NM_001201377.2:c.817_818del | NP_001188306.1:p.Asn273CysfsTer6 | |
| NM_001202404.2:c.901_902del | NP_001189333.2:p.Asn301CysfsTer6 |