Linked Data
dbSNP Id:
rs1595898707
gnomAD v2:
11-47463355-CTGCAT-C
gnomAD v3:
11-47441803-CTGCAT-C
gnomAD v4:
11-47441803-CTGCAT-C
MyVariant Identifiers:
chr11:g.47463356_47463360del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441804_47441808del , CM000673.2:g.47441804_47441808del | GRCh38 |
| NC_000011.9:g.47463356_47463360del , CM000673.1:g.47463356_47463360del | GRCh37 |
| NC_000011.8:g.47419932_47419936del | NCBI36 |
| NG_008312.1:g.12371_12375del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.789+15_789+19del MANE Select | ENSP00000298854.2:n.789+15_789+19del | |
| ENST00000298854.6:c.789+15_789+19del | ENSP00000298854.2:n.789+15_789+19del | |
| ENST00000352508.7:c.789+15_789+19del | ENSP00000298853.3:n.789+15_789+19del | |
| ENST00000524487.5:c.630+15_630+19del | ENSP00000435551.2:n.630+15_630+19del | |
| ENST00000529341.1:c.789+15_789+19del | ENSP00000431732.1:n.789+15_789+19del | |
| NM_005055.4:c.789+15_789+19del | NP_005046.2:n.789+15_789+19del | |
| NM_032645.4:c.789+15_789+19del | NP_116034.2:n.789+15_789+19del | |
| XM_005253042.2:c.789+15_789+19del | XP_005253099.1:n.789+15_789+19del | |
| XM_005253043.2:c.789+15_789+19del | XP_005253100.1:n.789+15_789+19del | |
| XM_011520252.1:c.789+15_789+19del | XP_011518554.1:n.789+15_789+19del | |
| XM_011520253.1:c.789+15_789+19del | XP_011518555.1:n.789+15_789+19del | |
| XM_005253042.3:c.789+15_789+19del | XP_005253099.1:n.789+15_789+19del | |
| XM_005253043.3:c.789+15_789+19del | XP_005253100.1:n.789+15_789+19del | |
| NM_005055.5:c.789+15_789+19del MANE Select | NP_005046.2:n.789+15_789+19del | |
| NM_032645.5:c.789+15_789+19del | NP_116034.2:n.789+15_789+19del |