Linked Data
dbSNP Id:
rs1449088824
gnomAD v3:
12-123743646-T-TC
gnomAD v4:
12-123743646-T-TC
MyVariant Identifiers:
chr12:g.124228193_124228194insC (hg19)
chr12:g.123743646_123743647insC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743648dup , CM000674.2:g.123743648dup | GRCh38 |
| NC_000012.11:g.124228195dup , CM000674.1:g.124228195dup | GRCh37 |
| NC_000012.10:g.122794148dup | NCBI36 |
| NG_012743.1:g.36331dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1039-137dup MANE Select | ENSP00000332247.2:n.1039-137dup | |
| ENST00000540368.6:n.1070-137dup | ||
| ENST00000674794.1:c.1127-137dup | ||
| ENST00000675260.1:n.177dup | ||
| ENST00000675344.1:c.*60-137dup | ENSP00000501953.1:n.*60-137dup | |
| ENST00000330342.7:c.1039-137dup | ENSP00000332247.2:n.1039-137dup | |
| ENST00000504192.2:c.649-137dup | ENSP00000443441.1:n.649-137dup | |
| ENST00000536426.1:n.56-137dup | ||
| ENST00000545059.5:n.3675-137dup | ||
| NM_012463.3:c.1039-137dup | NP_036595.2:n.1039-137dup | |
| XM_005253563.1:c.1039-137dup | XP_005253620.1:n.1039-137dup | |
| XM_006719317.2:c.526-137dup | XP_006719380.1:n.526-137dup | |
| XM_006719318.2:c.217-137dup | XP_006719381.1:n.217-137dup | |
| XR_429088.1:n.1202-137dup | ||
| XM_024448910.1:c.1039-137dup | XP_024304678.1:n.1039-137dup | |
| XM_024448911.1:c.526-137dup | XP_024304679.1:n.526-137dup | |
| XM_024448912.1:c.217-137dup | XP_024304680.1:n.217-137dup | |
| NM_012463.4:c.1039-137dup MANE Select | NP_036595.2:n.1039-137dup |