Linked Data
dbSNP Id:
rs1450960199
gnomAD v2:
8-17461261-CAATT-C
gnomAD v3:
8-17603752-CAATT-C
gnomAD v4:
8-17603752-CAATT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.17603755_17603758del , CM000670.2:g.17603755_17603758del | GRCh38 |
| NC_000008.10:g.17461264_17461267del , CM000670.1:g.17461264_17461267del | GRCh37 |
| NC_000008.9:g.17505541_17505544del | NCBI36 |
| NG_023332.1:g.32323_32326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251630.11:c.353+13990_353+13993del MANE Select | ENSP00000251630.4:n.353+13990_353+13993del | |
| ENST00000673645.1:c.353+13990_353+13993del | ENSP00000501219.1:n.353+13990_353+13993del | |
| ENST00000251630.10:c.353+13990_353+13993del | ENSP00000251630.4:n.353+13990_353+13993del | |
| ENST00000541323.1:c.353+13990_353+13993del | ENSP00000444211.1:n.353+13990_353+13993del | |
| NM_006207.2:c.353+13990_353+13993del | NP_006198.1:n.353+13990_353+13993del | |
| XM_011544558.1:c.353+13990_353+13993del | XP_011542860.1:n.353+13990_353+13993del | |
| NM_001372073.1:c.353+13990_353+13993del MANE Select | NP_001359002.1:n.353+13990_353+13993del |