Linked Data
ClinVar Variation Id:
97594
ClinVar RCV Id:
RCV000083846
dbSNP Id:
rs104895375
MyVariant Identifiers:
chr12:g.110019331_110019340delinsAC (hg19)
chr12:g.109581526_109581535delinsAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109581526_109581535delinsAC , CM000674.2:g.109581526_109581535delinsAC | GRCh38 |
| NC_000012.11:g.110019331_110019340delinsAC , CM000674.1:g.110019331_110019340delinsAC | GRCh37 |
| NC_000012.10:g.108503714_108503723delinsAC | NCBI36 |
| NG_007702.1:g.12832_12841delinsAC , LRG_156:g.12832_12841delinsAC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539696.6:c.-92+7653_-92+7662delinsAC | ENSP00000439134.1:n.-92+7653_-92+7662deli... | |
| ENST00000546277.6:c.503_512delinsAC | ENSP00000438153.2:p.Leu168HisfsTer16 | |
| ENST00000636529.2:n.79-4496_79-4487delinsAC | ||
| ENST00000697195.1:c.*267_*276delinsAC | ENSP00000513181.1:n.*267_*276delinsAC | |
| ENST00000697196.1:c.503_512delinsAC | ENSP00000513182.1:p.Leu168HisfsTer16 | |
| ENST00000228510.8:c.503_512delinsAC MANE Select | ENSP00000228510.3:p.Leu168HisfsTer16 | |
| ENST00000636529.1:c.65-4496_65-4487delinsAC | ||
| ENST00000636996.1:c.351_360delinsAC | ||
| ENST00000228510.7:c.503_512delinsAC | ENSP00000228510.3:p.Leu168HisfsTer16 | |
| ENST00000392727.7:c.371+1580_371+1589delinsAC | ENSP00000376487.3:n.371+1580_371+1589deli... | |
| ENST00000447878.6:c.227-4496_227-4487delinsAC | ENSP00000415555.2:n.227-4496_227-4487deli... | |
| ENST00000535044.1:n.472-4496_472-4487delinsAC | ||
| ENST00000537237.5:c.*267_*276delinsAC | ENSP00000445382.1:n.*267_*276delinsAC | |
| ENST00000539335.5:c.503_512delinsAC | ENSP00000440379.1:p.Leu168HisfsTer? | |
| ENST00000539575.4:c.503_512delinsAC | ENSP00000443551.2:p.Leu168HisfsTer16 | |
| ENST00000539696.5:c.-92+7653_-92+7662delinsAC | ENSP00000439134.1:n.-92+7653_-92+7662deli... | |
| ENST00000545516.1:n.48_57delinsAC | ||
| ENST00000545774.5:c.227-4496_227-4487delinsAC | ENSP00000443978.1:n.227-4496_227-4487deli... | |
| ENST00000546277.5:c.503_512delinsAC | ENSP00000438153.1:p.Leu168HisfsTer16 | |
| ENST00000625889.2:c.371+1580_371+1589delinsAC | ENSP00000486846.1:n.371+1580_371+1589deli... | |
| ENST00000629016.2:c.227-4496_227-4487delinsAC | ENSP00000486804.1:n.227-4496_227-4487deli... | |
| NM_000431.3:c.503_512delinsAC | NP_000422.1:p.Leu168HisfsTer16 | |
| NM_001114185.2:c.503_512delinsAC | NP_001107657.1:p.Leu168HisfsTer16 | |
| NM_001301182.1:c.371+1580_371+1589delinsAC | NP_001288111.1:n.371+1580_371+1589delinsA... | |
| XM_011538372.1:c.503_512delinsAC | XP_011536674.1:p.Leu168HisfsTer16 | |
| XM_017019313.2:c.371+1580_371+1589delinsAC | XP_016874802.1:n.371+1580_371+1589delinsA... | |
| XM_017019314.1:c.503_512delinsAC | XP_016874803.1:p.Leu168HisfsTer16 | |
| XM_024448982.1:c.503_512delinsAC | XP_024304750.1:p.Leu168HisfsTer16 | |
| NM_000431.4:c.503_512delinsAC MANE Select | NP_000422.1:p.Leu168HisfsTer16 | |
| NM_001114185.3:c.503_512delinsAC | NP_001107657.1:p.Leu168HisfsTer16 | |
| NM_001301182.2:c.371+1580_371+1589delinsAC | NP_001288111.1:n.371+1580_371+1589delinsA... |