Linked Data
dbSNP Id:
rs377181735
gnomAD v3:
2-11587694-AACACACACAC-A
gnomAD v4:
2-11587694-AACACACACAC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.11587733_11587742del , CM000664.2:g.11587733_11587742del | GRCh38 |
| NC_000002.11:g.11727859_11727868del , CM000664.1:g.11727859_11727868del | GRCh37 |
| NC_000002.10:g.11645310_11645319del | NCBI36 |
| NG_029429.1:g.58618_58627del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381486.7:c.1160-1013_1160-1004del MANE Select | ENSP00000370896.2:n.1160-1013_1160-1004del | |
| ENST00000234142.9:c.1160-1013_1160-1004del | ENSP00000234142.5:n.1160-1013_1160-1004del | |
| ENST00000263834.9:c.*281_*290del | ENSP00000263834.5:n.*281_*290del | |
| ENST00000381483.6:c.1160-1013_1160-1004del | ENSP00000370892.2:n.1160-1013_1160-1004del | |
| ENST00000381486.6:c.1160-1013_1160-1004del | ENSP00000370896.2:n.1160-1013_1160-1004del | |
| NM_014668.3:c.1160-1013_1160-1004del | NP_055483.2:n.1160-1013_1160-1004del | |
| NM_033090.2:c.1160-1013_1160-1004del | NP_149081.1:n.1160-1013_1160-1004del | |
| NM_148903.2:c.*281_*290del | NP_683701.2:n.*281_*290del | |
| XM_005246192.3:c.1160-1013_1160-1004del | XP_005246249.1:n.1160-1013_1160-1004del | |
| XM_011510418.1:c.1160-1013_1160-1004del | XP_011508720.1:n.1160-1013_1160-1004del | |
| XM_011510419.1:c.1160-1013_1160-1004del | XP_011508721.1:n.1160-1013_1160-1004del | |
| XM_011510420.1:c.1160-1013_1160-1004del | XP_011508722.1:n.1160-1013_1160-1004del | |
| XM_011510421.1:c.1160-1013_1160-1004del | XP_011508723.1:n.1160-1013_1160-1004del | |
| XM_011510423.1:c.1160-1013_1160-1004del | XP_011508725.1:n.1160-1013_1160-1004del | |
| XR_922686.1:n.1321-1013_1321-1004del | ||
| XM_005246192.4:c.1160-1013_1160-1004del | XP_005246249.1:n.1160-1013_1160-1004del | |
| XM_011510418.3:c.1160-1013_1160-1004del | XP_011508720.1:n.1160-1013_1160-1004del | |
| XM_011510419.3:c.1160-1013_1160-1004del | XP_011508721.1:n.1160-1013_1160-1004del | |
| XM_011510423.3:c.1160-1013_1160-1004del | XP_011508725.1:n.1160-1013_1160-1004del | |
| XM_024453250.1:c.1160-1013_1160-1004del | XP_024309018.1:n.1160-1013_1160-1004del | |
| XM_024453251.1:c.1160-1013_1160-1004del | XP_024309019.1:n.1160-1013_1160-1004del | |
| XM_024453252.1:c.1160-1013_1160-1004del | XP_024309020.1:n.1160-1013_1160-1004del | |
| XM_024453253.1:c.1160-1013_1160-1004del | XP_024309021.1:n.1160-1013_1160-1004del | |
| XM_024453254.1:c.1160-1013_1160-1004del | XP_024309022.1:n.1160-1013_1160-1004del | |
| XM_024453255.1:c.1160-1013_1160-1004del | XP_024309023.1:n.1160-1013_1160-1004del | |
| XM_024453256.1:c.1160-1013_1160-1004del | XP_024309024.1:n.1160-1013_1160-1004del | |
| XR_001739081.2:n.2090-1013_2090-1004del | ||
| XR_922686.3:n.2089-1013_2089-1004del | ||
| NM_014668.4:c.1160-1013_1160-1004del MANE Select | NP_055483.2:n.1160-1013_1160-1004del | |
| NM_033090.3:c.1160-1013_1160-1004del | NP_149081.1:n.1160-1013_1160-1004del | |
| NM_148903.3:c.*281_*290del | NP_683701.2:n.*281_*290del |