Linked Data
dbSNP Id:
rs753624883
ExAC:
12:52307110 CACA / C
gnomAD v2:
12-52307110-CACA-C
gnomAD v4:
12-51913326-CACA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913329_51913331del , CM000674.2:g.51913329_51913331del | GRCh38 |
| NC_000012.11:g.52307113_52307115del , CM000674.1:g.52307113_52307115del | GRCh37 |
| NC_000012.10:g.50593380_50593382del | NCBI36 |
| NG_009549.1:g.10912_10914del , LRG_543:g.10912_10914del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.334_336del | ENSP00000446724.2:p.Asn112del | |
| ENST00000551576.6:c.292_294del | ENSP00000455848.2:p.Asn98del | |
| ENST00000552678.2:c.292_294del | ENSP00000457394.2:p.Asn98del | |
| ENST00000388922.9:c.292_294del MANE Select | ENSP00000373574.4:p.Asn98del | |
| ENST00000388922.8:c.292_294del | ENSP00000373574.4:p.Asn98del | |
| ENST00000419526.6:c.103+794_103+796del | ENSP00000392492.2:n.103+794_103+796del | |
| ENST00000547400.5:c.334_336del | ENSP00000446724.1:p.Asn112del | |
| ENST00000550683.5:c.334_336del | ENSP00000447884.1:p.Asn112del | |
| NM_000020.2:c.292_294del , LRG_543t1:c.292_294del | NP_000011.2:p.Asn98del | |
| NM_001077401.1:c.292_294del | NP_001070869.1:p.Asn98del | |
| XM_005269235.2:c.292_294del | XP_005269292.1:p.Asn98del | |
| XM_011539008.1:c.334_336del | XP_011537310.1:p.Asn112del | |
| XM_024449279.1:c.-398_-396del | XP_024305047.1:n.-398_-396del | |
| NM_000020.3:c.292_294del MANE Select | NP_000011.2:p.Asn98del | |
| NM_001077401.2:c.292_294del | NP_001070869.1:p.Asn98del |