Linked Data
dbSNP Id:
rs1025978502
gnomAD v2:
19-45856924-CACT-C
gnomAD v3:
19-45353666-CACT-C
gnomAD v4:
19-45353666-CACT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45353669_45353671del , CM000681.2:g.45353669_45353671del | GRCh38 |
| NC_000019.9:g.45856927_45856929del , CM000681.1:g.45856927_45856929del | GRCh37 |
| NC_000019.8:g.50548767_50548769del | NCBI36 |
| NG_007067.2:g.21919_21921del , LRG_461:g.21919_21921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1666-335_1666-333del | ENSP00000375808.4:n.1666-335_1666-333del | |
| ENST00000682414.1:c.1666-335_1666-333del | ENSP00000507019.1:n.1666-335_1666-333del | |
| ENST00000682508.1:n.1695-335_1695-333del | ||
| ENST00000684218.1:c.*924-335_*924-333del | ENSP00000507804.1:n.*924-335_*924-333del | |
| ENST00000684264.1:n.1222-335_1222-333del | ||
| ENST00000684407.1:c.1543-335_1543-333del | ENSP00000507775.1:n.1543-335_1543-333del | |
| ENST00000684458.1:c.*152-335_*152-333del | ENSP00000508260.1:n.*152-335_*152-333del | |
| ENST00000684468.1:n.1378-335_1378-333del | ||
| ENST00000391945.10:c.1666-335_1666-333del MANE Select | ENSP00000375809.4:n.1666-335_1666-333del | |
| ENST00000587376.6:c.725-335_725-333del | ||
| ENST00000646507.1:n.1763-335_1763-333del | ||
| ENST00000391941.6:c.1594-335_1594-333del | ENSP00000375805.2:n.1594-335_1594-333del | |
| ENST00000391942.6:n.837-335_837-333del | ||
| ENST00000391944.7:c.1432-335_1432-333del | ENSP00000375808.3:n.1432-335_1432-333del | |
| ENST00000391945.8:c.1666-335_1666-333del | ENSP00000375809.3:n.1666-335_1666-333del | |
| ENST00000587376.5:c.725-335_725-333del | ||
| ENST00000588652.5:n.1754-335_1754-333del | ||
| NM_000400.3:c.1666-335_1666-333del , LRG_461t1:c.1666-335_1666-333del | NP_000391.1:n.1666-335_1666-333del | |
| XM_011526611.1:c.1588-335_1588-333del | XP_011524913.1:n.1588-335_1588-333del | |
| XR_935763.1:n.1649-335_1649-333del | ||
| XM_011526611.2:c.1588-335_1588-333del | XP_011524913.1:n.1588-335_1588-333del | |
| XM_017026467.1:c.1543-335_1543-333del | XP_016881956.1:n.1543-335_1543-333del | |
| XR_001753633.2:n.1713-335_1713-333del | ||
| XR_001753634.2:n.1649-335_1649-333del | ||
| NM_000400.4:c.1666-335_1666-333del MANE Select | NP_000391.1:n.1666-335_1666-333del |