Linked Data
dbSNP Id:
rs747277420
ExAC:
12:107395496 GATTT / G
gnomAD v2:
12-107395496-GATTT-G
gnomAD v3:
12-107001718-GATTT-G
gnomAD v4:
12-107001718-GATTT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001722_107001725del , CM000674.2:g.107001722_107001725del | GRCh38 |
| NC_000012.11:g.107395500_107395503del , CM000674.1:g.107395500_107395503del | GRCh37 |
| NC_000012.10:g.105919630_105919633del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.595+42_595+45del MANE Select | ENSP00000008527.5:n.595+42_595+45del | |
| ENST00000008527.9:c.595+42_595+45del | ENSP00000008527.5:n.595+42_595+45del | |
| ENST00000546722.1:n.88+42_88+45del | ||
| ENST00000552790.5:n.1154+42_1154+45del | ||
| NM_004075.4:c.595+42_595+45del | NP_004066.1:n.595+42_595+45del | |
| XM_011537939.1:c.511+42_511+45del | XP_011536241.1:n.511+42_511+45del | |
| XM_017018832.2:c.511+42_511+45del | XP_016874321.1:n.511+42_511+45del | |
| XM_024448844.1:c.595+42_595+45del | XP_024304612.1:n.595+42_595+45del | |
| XM_024448845.1:c.511+42_511+45del | XP_024304613.1:n.511+42_511+45del | |
| NM_004075.5:c.595+42_595+45del MANE Select | NP_004066.1:n.595+42_595+45del |