Linked Data
dbSNP Id:
rs753284945
ExAC:
3:165547712 ATTG / A
gnomAD v2:
3-165547712-ATTG-A
gnomAD v4:
3-165829924-ATTG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829927_165829929del , CM000665.2:g.165829927_165829929del | GRCh38 |
| NC_000003.11:g.165547715_165547717del , CM000665.1:g.165547715_165547717del | GRCh37 |
| NC_000003.10:g.167030409_167030411del | NCBI36 |
| NG_009031.1:g.12539_12541del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1107_1109del MANE Select | ENSP00000264381.3:p.Asn370del | |
| ENST00000264381.7:c.1107_1109del | ENSP00000264381.3:p.Asn370del | |
| ENST00000479451.5:c.107+7387_107+7389del | ENSP00000418325.1:n.107+7387_107+7389del | |
| ENST00000482958.1:c.1107_1109del | ENSP00000419804.1:p.Asn370del | |
| ENST00000488954.1:c.107+7387_107+7389del | ENSP00000418504.1:n.107+7387_107+7389del | |
| ENST00000497011.5:c.1107_1109del | ENSP00000419505.1:p.Asn370del | |
| NM_000055.2:c.1107_1109del | NP_000046.1:p.Asn370del | |
| XM_005247685.1:c.1230_1232del | XP_005247742.1:p.Asn411del | |
| NM_000055.3:c.1107_1109del | NP_000046.1:p.Asn370del | |
| NR_137635.1:n.159+7387_159+7389del | ||
| NR_137636.1:n.1274_1276del | ||
| NM_000055.4:c.1107_1109del MANE Select | NP_000046.1:p.Asn370del | |
| NR_137635.2:n.110+7387_110+7389del | ||
| NR_137636.2:n.1225_1227del |