Linked Data
dbSNP Id:
rs760527798
ExAC:
6:33132704 CCGAGCA / C
gnomAD v2:
6-33132704-CCGAGCA-C
gnomAD v4:
6-33164927-CCGAGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164929_33164934del , CM000668.2:g.33164929_33164934del | GRCh38 |
| NC_000006.11:g.33132706_33132711del , CM000668.1:g.33132706_33132711del | GRCh37 |
| NC_000006.10:g.33240684_33240689del | NCBI36 |
| NG_011589.1:g.32536_32541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.588_593del | ||
| ENST00000341947.7:c.4782_4787del MANE Select | ENSP00000339915.2:p.Cys1594_Arg1596delinsTrp | |
| ENST00000341947.6:c.4782_4787del | ENSP00000339915.2:p.Cys1594_Arg1596delinsTrp | |
| ENST00000361917.5:c.4461_4466del | ENSP00000355123.1:p.Cys1487_Arg1489delinsTrp | |
| ENST00000374708.8:c.4524_4529del | ENSP00000363840.4:p.Cys1508_Arg1510delinsTrp | |
| ENST00000477772.1:n.572_577del | ||
| NM_080679.2:c.4461_4466del | NP_542410.2:p.Cys1487_Arg1489delinsTrp | |
| NM_080680.2:c.4782_4787del | NP_542411.2:p.Cys1594_Arg1596delinsTrp | |
| NM_080681.2:c.4524_4529del | NP_542412.2:p.Cys1508_Arg1510delinsTrp | |
| XM_011514298.1:c.3936_3941del | XP_011512600.1:p.Cys1312_Arg1314delinsTrp | |
| XM_011514299.1:c.4068_4073del | XP_011512601.1:p.Cys1356_Arg1358delinsTrp | |
| XM_011514300.1:c.3888_3893del | XP_011512602.1:p.Cys1296_Arg1298delinsTrp | |
| XM_011514301.1:c.3825_3830del | XP_011512603.1:p.Cys1275_Arg1277delinsTrp | |
| XM_011514302.1:c.3669_3674del | XP_011512604.1:p.Cys1223_Arg1225delinsTrp | |
| XM_011514299.2:c.4068_4073del | XP_011512601.1:p.Cys1356_Arg1358delinsTrp | |
| XM_011514300.2:c.3888_3893del | XP_011512602.1:p.Cys1296_Arg1298delinsTrp | |
| XM_011514302.2:c.3669_3674del | XP_011512604.1:p.Cys1223_Arg1225delinsTrp | |
| XM_017010250.1:c.4782_4787del | XP_016865739.1:p.Cys1594_Arg1596delinsTrp | |
| XM_017010251.2:c.3600_3605del | XP_016865740.1:p.Cys1200_Arg1202delinsTrp | |
| NM_080680.3:c.4782_4787del MANE Select | NP_542411.2:p.Cys1594_Arg1596delinsTrp | |
| NM_080681.3:c.4524_4529del | NP_542412.2:p.Cys1508_Arg1510delinsTrp | |
| NM_080679.3:c.4461_4466del | NP_542410.2:p.Cys1487_Arg1489delinsTrp |