Linked Data
dbSNP Id:
rs1233948890
MyVariant Identifiers:
chr2:g.215796819_215796820insACAT (hg19)
chr2:g.214932095_214932096insACAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214932100_214932103dup , CM000664.2:g.214932100_214932103dup | GRCh38 |
| NC_000002.11:g.215796824_215796827dup , CM000664.1:g.215796824_215796827dup | GRCh37 |
| NC_000002.10:g.215505069_215505072dup | NCBI36 |
| NG_007074.1:g.211329_211332dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.*535_*538dup (ABCA12) MANE Select | ENSP00000272895.7:n.*535_*538dup | |
| ENST00000272895.11:c.*535_*538dup (ABCA12) | ENSP00000272895.7:n.*535_*538dup | |
| NM_015657.3:c.*535_*538dup (ABCA12) | NP_056472.2:n.*535_*538dup | |
| NM_173076.2:c.*535_*538dup (ABCA12) | NP_775099.2:n.*535_*538dup | |
| NR_103740.1:n.8623_8626dup (ABCA12) | ||
| NR_110292.1:n.322-15725_322-15722dup (SNHG31) | ||
| XM_011510951.1:c.*535_*538dup (ABCA12) | XP_011509253.1:n.*535_*538dup | |
| XM_011510951.2:c.*535_*538dup (ABCA12) | XP_011509253.1:n.*535_*538dup | |
| NM_173076.3:c.*535_*538dup (ABCA12) MANE Select | NP_775099.2:n.*535_*538dup | |
| NR_103740.2:n.8821_8824dup (ABCA12) | ||
| NM_015657.4:c.*535_*538dup (ABCA12) | NP_056472.2:n.*535_*538dup |