Linked Data
dbSNP Id:
rs1023398066
gnomAD v3:
16-2340585-CCGGGGCGG-C
gnomAD v4:
16-2340585-CCGGGGCGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340589_2340596del , CM000678.2:g.2340589_2340596del | GRCh38 |
| NC_000016.9:g.2390590_2390597del , CM000678.1:g.2390590_2390597del | GRCh37 |
| NC_000016.8:g.2330591_2330598del | NCBI36 |
| NG_011790.1:g.5154_5161del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301732.10:c.-559_-552del (ABCA3) MANE Select | ENSP00000301732.5:n.-559_-552del | |
| ENST00000640929.1:n.42+1258_42+1265del (ABCA17P) | ||
| ENST00000301732.9:c.-559_-552del (ABCA3) | ENSP00000301732.5:n.-559_-552del | |
| ENST00000382381.7:c.-559_-552del (ABCA3) | ENSP00000371818.3:n.-559_-552del | |
| ENST00000512848.5:n.182+1258_182+1265del (ABCA17P) | ||
| ENST00000563623.5:n.5_12del (ABCA3) | ||
| NM_001089.2:c.-559_-552del (ABCA3) | NP_001080.2:n.-559_-552del | |
| NM_001089.3:c.-559_-552del (ABCA3) MANE Select | NP_001080.2:n.-559_-552del |