Linked Data
dbSNP Id:
rs1565593558
gnomAD v2:
12-52308187-CAG-C
gnomAD v4:
12-51914403-CAG-C
MyVariant Identifiers:
chr12:g.52308188_52308189del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51914404_51914405del , CM000674.2:g.51914404_51914405del | GRCh38 |
| NC_000012.11:g.52308188_52308189del , CM000674.1:g.52308188_52308189del | GRCh37 |
| NC_000012.10:g.50594455_50594456del | NCBI36 |
| NG_009549.1:g.11987_11988del , LRG_543:g.11987_11988del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547400.6:c.356-35_356-34del | ENSP00000446724.2:n.356-35_356-34del | |
| ENST00000551576.6:c.626-35_626-34del | ENSP00000455848.2:n.626-35_626-34del | |
| ENST00000552678.2:c.626-35_626-34del | ENSP00000457394.2:n.626-35_626-34del | |
| ENST00000388922.9:c.626-35_626-34del MANE Select | ENSP00000373574.4:n.626-35_626-34del | |
| ENST00000388922.8:c.626-35_626-34del | ENSP00000373574.4:n.626-35_626-34del | |
| ENST00000419526.6:c.104-35_104-34del | ENSP00000392492.2:n.104-35_104-34del | |
| ENST00000547400.5:c.356-35_356-34del | ENSP00000446724.1:n.356-35_356-34del | |
| ENST00000550683.5:c.668-35_668-34del | ENSP00000447884.1:n.668-35_668-34del | |
| NM_000020.2:c.626-35_626-34del , LRG_543t1:c.626-35_626-34del | NP_000011.2:n.626-35_626-34del | |
| NM_001077401.1:c.626-35_626-34del | NP_001070869.1:n.626-35_626-34del | |
| XM_005269235.2:c.626-35_626-34del | XP_005269292.1:n.626-35_626-34del | |
| XM_011539008.1:c.356-35_356-34del | XP_011537310.1:n.356-35_356-34del | |
| XM_024449279.1:c.-164-35_-164-34del | XP_024305047.1:n.-164-35_-164-34del | |
| NM_000020.3:c.626-35_626-34del MANE Select | NP_000011.2:n.626-35_626-34del | |
| NM_001077401.2:c.626-35_626-34del | NP_001070869.1:n.626-35_626-34del |