Linked Data
dbSNP Id:
rs774827167
ExAC:
15:75188503 AAAC / A
gnomAD v2:
15-75188503-AAAC-A
gnomAD v4:
15-74896162-AAAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74896167_74896169del , CM000677.2:g.74896167_74896169del | GRCh38 |
| NC_000015.9:g.75188508_75188510del , CM000677.1:g.75188508_75188510del | GRCh37 |
| NC_000015.8:g.72975561_72975563del | NCBI36 |
| NG_008921.1:g.11099_11101del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.686_688del MANE Select | ENSP00000318318.6:p.Asn229del | |
| ENST00000323744.10:c.503_505del | ENSP00000318192.6:p.Asn168del | |
| ENST00000352410.8:c.686_688del | ENSP00000318318.6:p.Asn229del | |
| ENST00000535694.5:c.536_538del | ENSP00000440447.1:p.Asn179del | |
| ENST00000561470.5:c.*582_*584del | ENSP00000454267.1:n.*582_*584del | |
| ENST00000562606.5:c.626_628del | ENSP00000457020.1:p.Asn209del | |
| ENST00000562800.5:c.256-1372_256-1370del | ENSP00000457619.1:n.256-1372_256-1370del | |
| ENST00000563422.5:c.686_688del | ENSP00000457885.1:p.Asn229del | |
| ENST00000563786.5:c.626_628del | ENSP00000455241.1:p.Asn209del | |
| ENST00000564003.5:c.353_355del | ENSP00000454312.1:p.Asn118del | |
| ENST00000566377.5:c.686_688del | ENSP00000455405.1:p.Asn229del | |
| ENST00000566556.1:n.734_736del | ||
| ENST00000567177.1:c.464_466del | ENSP00000457013.1:p.Asn155del | |
| ENST00000569931.5:c.626_628del | ENSP00000455161.1:p.Asn209del | |
| NM_001289155.1:c.686_688del | NP_001276084.1:p.Asn229del | |
| NM_001289156.1:c.536_538del | NP_001276085.1:p.Asn179del | |
| NM_001289157.1:c.503_505del | NP_001276086.1:p.Asn168del | |
| NM_002435.2:c.686_688del | NP_002426.1:p.Asn229del | |
| XM_011521592.1:c.674_676del | XP_011519894.1:p.Asn225del | |
| XM_011521593.1:c.626_628del | XP_011519895.1:p.Asn209del | |
| NM_001330372.1:c.626_628del | NP_001317301.1:p.Asn209del | |
| XM_017022208.1:c.626_628del | XP_016877697.1:p.Asn209del | |
| XM_017022209.2:c.536_538del | XP_016877698.1:p.Asn179del | |
| NM_002435.3:c.686_688del MANE Select | NP_002426.1:p.Asn229del | |
| NM_001289155.2:c.686_688del | NP_001276084.1:p.Asn229del | |
| NM_001289156.2:c.536_538del | NP_001276085.1:p.Asn179del | |
| NM_001289157.2:c.503_505del | NP_001276086.1:p.Asn168del | |
| NM_001330372.2:c.626_628del | NP_001317301.1:p.Asn209del |