Linked Data
dbSNP Id:
rs763587626
ExAC:
1:227172604 CG / C
gnomAD v2:
1-227172604-CG-C
gnomAD v4:
1-226984903-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226984906del , CM000663.2:g.226984906del | GRCh38 |
| NC_000001.10:g.227172607del , CM000663.1:g.227172607del | GRCh37 |
| NC_000001.9:g.225239230del | NCBI36 |
| NG_012825.1:g.49670del | |
| NG_012825.2:g.92371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366777.4:c.1537del MANE Select | ENSP00000355739.3:p.Glu513AsnfsTer30 | |
| ENST00000366779.6:c.*6264del | ENSP00000355741.2:n.*6264del | |
| ENST00000366777.3:c.1537del | ENSP00000355739.3:p.Glu513AsnfsTer30 | |
| ENST00000366778.5:c.1381del | ENSP00000355740.1:p.Glu461AsnfsTer30 | |
| ENST00000366779.5:c.1537del | ENSP00000355741.1:p.Glu513AsnfsTer30 | |
| ENST00000478406.5:n.2399del | ||
| ENST00000479852.1:n.724del | ||
| ENST00000485462.5:n.927del | ||
| NM_020247.4:c.1537del | NP_064632.2:p.Glu513AsnfsTer30 | |
| XM_005273201.1:c.1537del | XP_005273258.1:p.Glu513AsnfsTer30 | |
| XM_011544238.1:c.1537del | XP_011542540.1:p.Glu513AsnfsTer30 | |
| XM_011544239.1:c.1537del | XP_011542541.1:p.Glu513AsnfsTer30 | |
| XM_011544240.1:c.1537del | XP_011542542.1:p.Glu513AsnfsTer30 | |
| XM_011544241.1:c.1537del | XP_011542543.1:p.Glu513AsnfsTer30 | |
| XM_011544239.2:c.1537del | XP_011542541.1:p.Glu513AsnfsTer30 | |
| XM_011544241.2:c.1537del | XP_011542543.1:p.Glu513AsnfsTer30 | |
| XM_017001852.1:c.1537del | XP_016857341.1:p.Glu513AsnfsTer30 | |
| XM_024448517.1:c.1537del | XP_024304285.1:p.Glu513AsnfsTer30 | |
| XM_024448518.1:c.1537del | XP_024304286.1:p.Glu513AsnfsTer30 | |
| NM_020247.5:c.1537del MANE Select | NP_064632.2:p.Glu513AsnfsTer30 |