Linked Data
dbSNP Id:
rs766862694
ExAC:
3:30715584 GT / G
gnomAD v2:
3-30715584-GT-G
gnomAD v4:
3-30674092-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30674097del , CM000665.2:g.30674097del | GRCh38 |
| NC_000003.11:g.30715589del , CM000665.1:g.30715589del | GRCh37 |
| NC_000003.10:g.30690593del | NCBI36 |
| NG_007490.1:g.72596del , LRG_779:g.72596del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1255-8del MANE Select | ENSP00000295754.5:n.1255-8del | |
| ENST00000672866.1:n.2851-8del | ||
| ENST00000673203.1:n.125del | ||
| ENST00000295754.9:c.1255-8del | ENSP00000295754.5:n.1255-8del | |
| ENST00000359013.4:c.1330-8del | ENSP00000351905.4:n.1330-8del | |
| NM_001024847.2:c.1330-8del , LRG_779t1:c.1330-8del | NP_001020018.1:n.1330-8del | |
| NM_003242.5:c.1255-8del | NP_003233.4:n.1255-8del | |
| XM_011534043.1:c.1282-8del | XP_011532345.1:n.1282-8del | |
| XM_011534044.1:c.1207-8del | XP_011532346.1:n.1207-8del | |
| XM_011534045.1:c.1150-8del | XP_011532347.1:n.1150-8del | |
| XM_011534043.2:c.1282-8del | XP_011532345.1:n.1282-8del | |
| XM_011534045.3:c.1150-8del | XP_011532347.1:n.1150-8del | |
| XM_017007106.1:c.1150-8del | XP_016862595.1:n.1150-8del | |
| NM_003242.6:c.1255-8del MANE Select | NP_003233.4:n.1255-8del |