Linked Data
ClinVar Variation Id:
2859
dbSNP Id:
rs387906284
ExAC:
2:215809744 CG / C
gnomAD v2:
2-215809744-CG-C
gnomAD v3:
2-214945020-CG-C
gnomAD v4:
2-214945020-CG-C
PubMed:
PMID:15756637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214945022del , CM000664.2:g.214945022del | GRCh38 |
| NC_000002.11:g.215809746del , CM000664.1:g.215809746del | GRCh37 |
| NC_000002.10:g.215517991del | NCBI36 |
| NG_007074.1:g.198407del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.7323del (ABCA12) MANE Select | ENSP00000272895.7:p.Val2442SerfsTer22 | |
| ENST00000272895.11:c.7323del (ABCA12) | ENSP00000272895.7:p.Val2442SerfsTer22 | |
| ENST00000389661.4:c.6369del (ABCA12) | ENSP00000374312.4:p.Val2124SerfsTer22 | |
| NM_015657.3:c.6369del (ABCA12) | NP_056472.2:p.Val2124SerfsTer22 | |
| NM_173076.2:c.7323del (ABCA12) | NP_775099.2:p.Val2442SerfsTer22 | |
| NR_103740.1:n.7623del (ABCA12) | ||
| NR_110292.1:n.322-2803del (SNHG31) | ||
| XM_011510951.1:c.7332del (ABCA12) | XP_011509253.1:p.Val2445SerfsTer22 | |
| XM_011510951.2:c.7332del (ABCA12) | XP_011509253.1:p.Val2445SerfsTer22 | |
| NM_173076.3:c.7323del (ABCA12) MANE Select | NP_775099.2:p.Val2442SerfsTer22 | |
| NR_103740.2:n.7821del (ABCA12) | ||
| NM_015657.4:c.6369del (ABCA12) | NP_056472.2:p.Val2124SerfsTer22 |