Linked Data
dbSNP Id:
rs1214435657
gnomAD v2:
19-45855361-CAGGAGGACAGGCAGGCTGAGGGT-C
gnomAD v3:
19-45352103-CAGGAGGACAGGCAGGCTGAGGGT-C
gnomAD v4:
19-45352103-CAGGAGGACAGGCAGGCTGAGGGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352104_45352126del , CM000681.2:g.45352104_45352126del | GRCh38 |
| NC_000019.9:g.45855362_45855384del , CM000681.1:g.45855362_45855384del | GRCh37 |
| NC_000019.8:g.50547202_50547224del | NCBI36 |
| NG_007067.2:g.23462_23484del , LRG_461:g.23462_23484del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2273_2295del | ENSP00000375808.4:p.His758ArgfsTer? | |
| ENST00000682414.1:c.2190+83_2190+105del | ENSP00000507019.1:n.2190+83_2190+105del | |
| ENST00000682508.1:n.2219+83_2219+105del | ||
| ENST00000684218.1:c.*1448+83_*1448+105del | ENSP00000507804.1:n.*1448+83_*1448+105del | |
| ENST00000684264.1:n.1746+83_1746+105del | ||
| ENST00000684407.1:c.2067+83_2067+105del | ENSP00000507775.1:n.2067+83_2067+105del | |
| ENST00000684458.1:c.*676+83_*676+105del | ENSP00000508260.1:n.*676+83_*676+105del | |
| ENST00000684468.1:n.1902+83_1902+105del | ||
| ENST00000391945.10:c.2190+83_2190+105del MANE Select | ENSP00000375809.4:n.2190+83_2190+105del | |
| ENST00000646507.1:n.2287+83_2287+105del | ||
| ENST00000391942.6:n.1361+83_1361+105del | ||
| ENST00000391944.7:c.1956+83_1956+105del | ENSP00000375808.3:n.1956+83_1956+105del | |
| ENST00000391945.8:c.2190+83_2190+105del | ENSP00000375809.3:n.2190+83_2190+105del | |
| ENST00000588652.5:n.2278+83_2278+105del | ||
| NM_000400.3:c.2190+83_2190+105del , LRG_461t1:c.2190+83_2190+105del | NP_000391.1:n.2190+83_2190+105del | |
| XM_011526611.1:c.2112+83_2112+105del | XP_011524913.1:n.2112+83_2112+105del | |
| XM_011526611.2:c.2112+83_2112+105del | XP_011524913.1:n.2112+83_2112+105del | |
| XM_017026467.1:c.2067+83_2067+105del | XP_016881956.1:n.2067+83_2067+105del | |
| XR_001753633.2:n.2237+83_2237+105del | ||
| XR_001753634.2:n.2173+83_2173+105del | ||
| NM_000400.4:c.2190+83_2190+105del MANE Select | NP_000391.1:n.2190+83_2190+105del |