Linked Data
dbSNP Id:
rs1680274112
gnomAD v3:
2-11587693-TAACACACACACACACACACACACACACACA-T
gnomAD v4:
2-11587693-TAACACACACACACACACACACACACACACA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11587694_11587723del , CM000664.2:g.11587694_11587723del | GRCh38 |
| NC_000002.11:g.11727820_11727849del , CM000664.1:g.11727820_11727849del | GRCh37 |
| NC_000002.10:g.11645271_11645300del | NCBI36 |
| NG_029429.1:g.58579_58608del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381486.7:c.1160-1052_1160-1023del MANE Select | ENSP00000370896.2:n.1160-1052_1160-1023del | |
| ENST00000234142.9:c.1160-1052_1160-1023del | ENSP00000234142.5:n.1160-1052_1160-1023del | |
| ENST00000263834.9:c.*242_*271del | ENSP00000263834.5:n.*242_*271del | |
| ENST00000381483.6:c.1160-1052_1160-1023del | ENSP00000370892.2:n.1160-1052_1160-1023del | |
| ENST00000381486.6:c.1160-1052_1160-1023del | ENSP00000370896.2:n.1160-1052_1160-1023del | |
| NM_014668.3:c.1160-1052_1160-1023del | NP_055483.2:n.1160-1052_1160-1023del | |
| NM_033090.2:c.1160-1052_1160-1023del | NP_149081.1:n.1160-1052_1160-1023del | |
| NM_148903.2:c.*242_*271del | NP_683701.2:n.*242_*271del | |
| XM_005246192.3:c.1160-1052_1160-1023del | XP_005246249.1:n.1160-1052_1160-1023del | |
| XM_011510418.1:c.1160-1052_1160-1023del | XP_011508720.1:n.1160-1052_1160-1023del | |
| XM_011510419.1:c.1160-1052_1160-1023del | XP_011508721.1:n.1160-1052_1160-1023del | |
| XM_011510420.1:c.1160-1052_1160-1023del | XP_011508722.1:n.1160-1052_1160-1023del | |
| XM_011510421.1:c.1160-1052_1160-1023del | XP_011508723.1:n.1160-1052_1160-1023del | |
| XM_011510423.1:c.1160-1052_1160-1023del | XP_011508725.1:n.1160-1052_1160-1023del | |
| XR_922686.1:n.1321-1052_1321-1023del | ||
| XM_005246192.4:c.1160-1052_1160-1023del | XP_005246249.1:n.1160-1052_1160-1023del | |
| XM_011510418.3:c.1160-1052_1160-1023del | XP_011508720.1:n.1160-1052_1160-1023del | |
| XM_011510419.3:c.1160-1052_1160-1023del | XP_011508721.1:n.1160-1052_1160-1023del | |
| XM_011510423.3:c.1160-1052_1160-1023del | XP_011508725.1:n.1160-1052_1160-1023del | |
| XM_024453250.1:c.1160-1052_1160-1023del | XP_024309018.1:n.1160-1052_1160-1023del | |
| XM_024453251.1:c.1160-1052_1160-1023del | XP_024309019.1:n.1160-1052_1160-1023del | |
| XM_024453252.1:c.1160-1052_1160-1023del | XP_024309020.1:n.1160-1052_1160-1023del | |
| XM_024453253.1:c.1160-1052_1160-1023del | XP_024309021.1:n.1160-1052_1160-1023del | |
| XM_024453254.1:c.1160-1052_1160-1023del | XP_024309022.1:n.1160-1052_1160-1023del | |
| XM_024453255.1:c.1160-1052_1160-1023del | XP_024309023.1:n.1160-1052_1160-1023del | |
| XM_024453256.1:c.1160-1052_1160-1023del | XP_024309024.1:n.1160-1052_1160-1023del | |
| XR_001739081.2:n.2090-1052_2090-1023del | ||
| XR_922686.3:n.2089-1052_2089-1023del | ||
| NM_014668.4:c.1160-1052_1160-1023del MANE Select | NP_055483.2:n.1160-1052_1160-1023del | |
| NM_033090.3:c.1160-1052_1160-1023del | NP_149081.1:n.1160-1052_1160-1023del | |
| NM_148903.3:c.*242_*271del | NP_683701.2:n.*242_*271del |