Linked Data
dbSNP Id:
rs1932653361
gnomAD v3:
22-39244732-G-GGCTGCAA
gnomAD v4:
22-39244732-G-GGCTGCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39244737_39244738insAAGCTGC , CM000684.2:g.39244737_39244738insAAGCTGC | GRCh38 |
| NC_000022.10:g.39640742_39640743insAAGCTGC , CM000684.1:g.39640742_39640743insAAGCTGC | GRCh37 |
| NC_000022.9:g.37970688_37970689insAAGCTGC | NCBI36 |
| NG_012111.1:g.5220_5221insTTGCAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331163.11:c.-770_-769insTTGCAGC MANE Select | ENSP00000330382.6:n.-770_-769insTTGCAGC | |
| ENST00000331163.10:c.-770_-769insTTGCAGC | ENSP00000330382.6:n.-770_-769insTTGCAGC | |
| NM_002608.2:c.-770_-769insTTGCAGC | NP_002599.1:n.-770_-769insTTGCAGC | |
| NM_002608.3:c.-770_-769insTTGCAGC | NP_002599.1:n.-770_-769insTTGCAGC | |
| NM_002608.4:c.-770_-769insTTGCAGC MANE Select | NP_002599.1:n.-770_-769insTTGCAGC |