Linked Data
dbSNP Id:
rs1230205640
gnomAD v2:
4-25145967-AAGAT-A
gnomAD v3:
4-25144345-AAGAT-A
gnomAD v4:
4-25144345-AAGAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.25144349_25144352del , CM000666.2:g.25144349_25144352del | GRCh38 |
| NC_000004.11:g.25145971_25145974del , CM000666.1:g.25145971_25145974del | GRCh37 |
| NC_000004.10:g.24755069_24755072del | NCBI36 |
| NG_028222.1:g.21234_21237del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382103.7:c.1026+425_1026+428del MANE Select | ENSP00000371535.2:n.1026+425_1026+428del | |
| ENST00000680581.1:c.1026+425_1026+428del | ENSP00000506483.1:n.1026+425_1026+428del | |
| ENST00000680824.1:n.2242+425_2242+428del | ||
| ENST00000681071.1:n.1318+425_1318+428del | ||
| ENST00000681341.1:n.2167+425_2167+428del | ||
| ENST00000681948.1:c.1281+425_1281+428del | ENSP00000505991.1:n.1281+425_1281+428del | |
| ENST00000358971.7:c.*824+425_*824+428del | ENSP00000351857.3:n.*824+425_*824+428del | |
| ENST00000382103.6:c.1026+425_1026+428del | ENSP00000371535.2:n.1026+425_1026+428del | |
| ENST00000503150.1:c.308+425_308+428del | ||
| ENST00000505513.1:n.326+425_326+428del | ||
| ENST00000514585.5:c.*727+425_*727+428del | ENSP00000421880.1:n.*727+425_*727+428del | |
| NM_016955.3:c.1026+425_1026+428del | NP_058651.3:n.1026+425_1026+428del | |
| XM_005248168.2:c.789+425_789+428del | XP_005248225.1:n.789+425_789+428del | |
| XM_006713965.2:c.846+425_846+428del | XP_006714028.1:n.846+425_846+428del | |
| XM_011513846.1:c.1023+425_1023+428del | XP_011512148.1:n.1023+425_1023+428del | |
| XM_011513847.1:c.993+425_993+428del | XP_011512149.1:n.993+425_993+428del | |
| XM_011513848.1:c.846+425_846+428del | XP_011512150.1:n.846+425_846+428del | |
| XM_011513846.2:c.1023+425_1023+428del | XP_011512148.1:n.1023+425_1023+428del | |
| XM_011513847.2:c.993+425_993+428del | XP_011512149.1:n.993+425_993+428del | |
| XM_017008277.1:c.1281+425_1281+428del | XP_016863766.1:n.1281+425_1281+428del | |
| XM_017008278.1:c.603+425_603+428del | XP_016863767.1:n.603+425_603+428del | |
| NM_016955.4:c.1026+425_1026+428del MANE Select | NP_058651.3:n.1026+425_1026+428del |