Linked Data
dbSNP Id:
rs760270313
gnomAD v2:
12-52314507-GCCTCCTCTCCTCTGCA-G
gnomAD v4:
12-51920723-GCCTCCTCTCCTCTGCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920728_51920743del , CM000674.2:g.51920728_51920743del | GRCh38 |
| NC_000012.11:g.52314512_52314527del , CM000674.1:g.52314512_52314527del | GRCh37 |
| NC_000012.10:g.50600779_50600794del | NCBI36 |
| NG_009549.1:g.18311_18326del , LRG_543:g.18311_18326del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.1108-31_1108-16del | ENSP00000446724.2:n.1108-31_1108-16del | |
| ENST00000551576.6:c.1378-31_1378-16del | ENSP00000455848.2:n.1378-31_1378-16del | |
| ENST00000388922.9:c.1378-31_1378-16del MANE Select | ENSP00000373574.4:n.1378-31_1378-16del | |
| ENST00000388922.8:c.1378-31_1378-16del | ENSP00000373574.4:n.1378-31_1378-16del | |
| ENST00000419526.6:c.856-31_856-16del | ENSP00000392492.2:n.856-31_856-16del | |
| ENST00000550683.5:c.1420-31_1420-16del | ENSP00000447884.1:n.1420-31_1420-16del | |
| NM_000020.2:c.1378-31_1378-16del , LRG_543t1:c.1378-31_1378-16del | NP_000011.2:n.1378-31_1378-16del | |
| NM_001077401.1:c.1378-31_1378-16del | NP_001070869.1:n.1378-31_1378-16del | |
| XM_005269235.2:c.1378-31_1378-16del | XP_005269292.1:n.1378-31_1378-16del | |
| XM_011539008.1:c.1108-31_1108-16del | XP_011537310.1:n.1108-31_1108-16del | |
| XM_024449279.1:c.589-31_589-16del | XP_024305047.1:n.589-31_589-16del | |
| NM_000020.3:c.1378-31_1378-16del MANE Select | NP_000011.2:n.1378-31_1378-16del | |
| NM_001077401.2:c.1378-31_1378-16del | NP_001070869.1:n.1378-31_1378-16del |