Linked Data
dbSNP Id:
rs1875931026
gnomAD v3:
12-102865820-A-ATACCCTAAAACTAAAG
gnomAD v4:
12-102865820-A-ATACCCTAAAACTAAAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865821_102865822insACCCTAAAACTAAAGT , CM000674.2:g.102865821_102865822insACCCTAAAACTAAAGT | GRCh38 |
| NC_000012.11:g.103259599_103259600insACCCTAAAACTAAAGT , CM000674.1:g.103259599_103259600insACCCTAAAACTAAAGT | GRCh37 |
| NC_000012.10:g.101783729_101783730insACCCTAAAACTAAAGT | NCBI36 |
| NG_008690.1:g.56782_56783insCTTTAGTTTTAGGGTA | |
| NG_008690.2:g.97590_97591insCTTTAGTTTTAGGGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+775_509+776insCTTTAGTTTTAGGGTA MANE Select | ENSP00000448059.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| ENST00000307000.7:c.494+775_494+776insCTTTAGTTTTAGGGTA | ENSP00000303500.2:n.494+775_494+776insCTTTAGTTTTAGGGTA | |
| ENST00000549111.5:n.605+775_605+776insCTTTAGTTTTAGGGTA | ||
| ENST00000551988.5:n.531-10489_531-10488insCTTTAGTTTTAGGGTA | ||
| ENST00000553106.5:c.509+775_509+776insCTTTAGTTTTAGGGTA | ENSP00000448059.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| NM_000277.1:c.509+775_509+776insCTTTAGTTTTAGGGTA | NP_000268.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| XM_011538422.1:c.509+775_509+776insCTTTAGTTTTAGGGTA | XP_011536724.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| NM_000277.2:c.509+775_509+776insCTTTAGTTTTAGGGTA | NP_000268.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| NM_001354304.1:c.509+775_509+776insCTTTAGTTTTAGGGTA | NP_001341233.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| XM_017019370.2:c.509+775_509+776insCTTTAGTTTTAGGGTA | XP_016874859.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| NM_000277.3:c.509+775_509+776insCTTTAGTTTTAGGGTA MANE Select | NP_000268.1:n.509+775_509+776insCTTTAGTTTTAGGGTA | |
| NM_001354304.2:c.509+775_509+776insCTTTAGTTTTAGGGTA | NP_001341233.1:n.509+775_509+776insCTTTAGTTTTAGGGTA |