Linked Data
ClinVar Variation Id:
437573
ClinVar RCV Id:
RCV000501591
dbSNP Id:
rs767543583
ExAC:
6:99374449 G / GAA
gnomAD v2:
6-99374449-G-GAA
gnomAD v4:
6-98926573-G-GAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98926573_98926574insAA , CM000668.2:g.98926573_98926574insAA | GRCh38 |
| NC_000006.11:g.99374449_99374450insAA , CM000668.1:g.99374449_99374450insAA | GRCh37 |
| NC_000006.10:g.99481170_99481171insAA | NCBI36 |
| NG_033903.1:g.26433_26434insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.415_416insTT MANE Select | ENSP00000358247.1:p.Ala139ValfsTer6 | |
| ENST00000229971.2:c.415_416insTT | ENSP00000229971.1:p.Ala139ValfsTer6 | |
| ENST00000369244.6:c.415_416insTT | ENSP00000358247.1:p.Ala139ValfsTer6 | |
| NM_001278716.1:c.415_416insTT | NP_001265645.1:p.Ala139ValfsTer6 | |
| NM_012160.4:c.415_416insTT | NP_036292.2:p.Ala139ValfsTer6 | |
| NR_103836.1:n.806_807insTT | ||
| NR_103837.1:n.806_807insTT | ||
| XM_005266930.1:c.415_416insTT | XP_005266987.1:p.Ala139ValfsTer6 | |
| XM_011535748.1:c.415_416insTT | XP_011534050.1:p.Ala139ValfsTer6 | |
| XM_005266930.3:c.415_416insTT | XP_005266987.1:p.Ala139ValfsTer6 | |
| XM_011535748.3:c.415_416insTT | XP_011534050.1:p.Ala139ValfsTer6 | |
| XM_017010726.1:c.415_416insTT | XP_016866215.1:p.Ala139ValfsTer6 | |
| XM_017010727.2:c.415_416insTT | XP_016866216.1:p.Ala139ValfsTer6 | |
| XM_017010728.1:c.-388_-387insTT | XP_016866217.1:n.-388_-387insTT | |
| NM_001278716.2:c.415_416insTT MANE Select | NP_001265645.1:p.Ala139ValfsTer6 | |
| NR_103836.2:n.746_747insTT | ||
| NR_103837.2:n.746_747insTT | ||
| NM_012160.5:c.415_416insTT | NP_036292.2:p.Ala139ValfsTer6 |