Linked Data
dbSNP Id:
rs766177644
ExAC:
2:203420364 CAGA / C
gnomAD v2:
2-203420364-CAGA-C
gnomAD v4:
2-202555641-CAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202555648_202555650del , CM000664.2:g.202555648_202555650del | GRCh38 |
| NC_000002.11:g.203420371_203420373del , CM000664.1:g.203420371_203420373del | GRCh37 |
| NC_000002.10:g.203128616_203128618del | NCBI36 |
| NG_009363.1:g.184322_184324del , LRG_712:g.184322_184324del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.1983_1985del MANE Select | ENSP00000363708.4:p.Glu661del | |
| ENST00000638587.1:c.1914_1916del | ENSP00000491062.1:n.1914_1916del | |
| ENST00000374574.2:c.1586+2760_1586+2762del | ENSP00000363702.2:n.1586+2760_1586+2762del | |
| ENST00000374580.8:c.1983_1985del | ENSP00000363708.4:p.Glu661del | |
| NM_001204.6:c.1983_1985del , LRG_712t1:c.1983_1985del | NP_001195.2:p.Glu661del | |
| XM_011511687.1:c.1983_1985del | XP_011509989.1:p.Glu661del | |
| XM_011511688.1:c.1586+2760_1586+2762del | XP_011509990.1:n.1586+2760_1586+2762del | |
| NM_001204.7:c.1983_1985del MANE Select | NP_001195.2:p.Glu661del |