Linked Data
dbSNP Id:
rs930905873
gnomAD v2:
10-55566035-ATTAT-A
gnomAD v3:
10-53806275-ATTAT-A
gnomAD v4:
10-53806275-ATTAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.53806279_53806282del , CM000672.2:g.53806279_53806282del | GRCh38 |
| NC_000010.10:g.55566039_55566042del , CM000672.1:g.55566039_55566042del | GRCh37 |
| NC_000010.9:g.55236045_55236048del | NCBI36 |
| NG_009191.2:g.1000013_1000016del | |
| NG_009191.3:g.1827904_1827907del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644397.2:c.*300_*303del MANE Select | ENSP00000495195.1:n.*300_*303del | |
| ENST00000373965.6:c.*300_*303del | ENSP00000363076.3:n.*300_*303del | |
| ENST00000414778.5:c.*300_*303del | ENSP00000410304.2:n.*300_*303del | |
| ENST00000614895.4:c.*300_*303del | ENSP00000478512.1:n.*300_*303del | |
| ENST00000616114.4:c.*300_*303del | ENSP00000483745.1:n.*300_*303del | |
| NM_001142771.1:c.*300_*303del | NP_001136243.1:n.*300_*303del | |
| NM_001142772.1:c.*300_*303del | NP_001136244.1:n.*300_*303del | |
| NM_001354420.1:c.*300_*303del | NP_001341349.1:n.*300_*303del | |
| NM_001354429.1:c.*300_*303del | NP_001341358.1:n.*300_*303del | |
| XR_001747192.2:n.11815_11818del | ||
| XR_001747193.2:n.11806_11809del | ||
| NM_001142771.2:c.*300_*303del | NP_001136243.1:n.*300_*303del | |
| NM_001142772.2:c.*300_*303del | NP_001136244.1:n.*300_*303del | |
| NM_001354420.2:c.*300_*303del | NP_001341349.1:n.*300_*303del | |
| NM_001354429.2:c.*300_*303del | NP_001341358.1:n.*300_*303del | |
| NM_001384140.1:c.*300_*303del MANE Select | NP_001371069.1:n.*300_*303del |