Linked Data
dbSNP Id:
rs1198356167
gnomAD v3:
16-2340395-G-GGCGGGC
gnomAD v4:
16-2340395-G-GGCGGGC
MyVariant Identifiers:
chr16:g.2390396_2390397insGCGGGC (hg19)
chr16:g.2340395_2340396insGCGGGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2340406_2340411dup , CM000678.2:g.2340406_2340411dup | GRCh38 |
| NC_000016.9:g.2390407_2390412dup , CM000678.1:g.2390407_2390412dup | GRCh37 |
| NC_000016.8:g.2330408_2330413dup | NCBI36 |
| NG_011790.1:g.5346_5351dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.-539+172_-539+177dup (ABCA3) MANE Select | ENSP00000301732.5:n.-539+172_-539+177dup | |
| ENST00000640929.1:n.42+1075_42+1080dup (ABCA17P) | ||
| ENST00000301732.9:c.-539+172_-539+177dup (ABCA3) | ENSP00000301732.5:n.-539+172_-539+177dup | |
| ENST00000382381.7:c.-539+172_-539+177dup (ABCA3) | ENSP00000371818.3:n.-539+172_-539+177dup | |
| ENST00000512848.5:n.182+1075_182+1080dup (ABCA17P) | ||
| ENST00000563623.5:n.25+172_25+177dup (ABCA3) | ||
| NM_001089.2:c.-539+172_-539+177dup (ABCA3) | NP_001080.2:n.-539+172_-539+177dup | |
| NM_001089.3:c.-539+172_-539+177dup (ABCA3) MANE Select | NP_001080.2:n.-539+172_-539+177dup |