Linked Data
dbSNP Id:
rs1304495839
MyVariant Identifiers:
chr12:g.121176856_121176857insA (hg19)
chr12:g.120739053_120739054insA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739054dup , CM000674.2:g.120739054dup | GRCh38 |
| NC_000012.11:g.121176857dup , CM000674.1:g.121176857dup | GRCh37 |
| NC_000012.10:g.119661240dup | NCBI36 |
| NG_007991.1:g.18287dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242592.9:c.1030-86dup MANE Select | ENSP00000242592.4:n.1030-86dup | |
| ENST00000242592.8:c.1030-86dup | ENSP00000242592.4:n.1030-86dup | |
| ENST00000411593.2:c.1018-86dup | ENSP00000401045.2:n.1018-86dup | |
| NM_000017.3:c.1030-86dup | NP_000008.1:n.1030-86dup | |
| NM_001302554.1:c.1018-86dup | NP_001289483.1:n.1018-86dup | |
| NM_000017.4:c.1030-86dup MANE Select | NP_000008.1:n.1030-86dup | |
| NM_001302554.2:c.1018-86dup | NP_001289483.1:n.1018-86dup |