Linked Data
dbSNP Id:
rs1373752719
gnomAD v2:
15-80472172-GCC-G
gnomAD v3:
15-80179830-GCC-G
gnomAD v4:
15-80179830-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80179832_80179833del , CM000677.2:g.80179832_80179833del | GRCh38 |
| NC_000015.9:g.80472174_80472175del , CM000677.1:g.80472174_80472175del | GRCh37 |
| NC_000015.8:g.78259229_78259230del | NCBI36 |
| NG_012833.1:g.31834_31835del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682012.1:n.1050-292_1050-291del | ||
| ENST00000561421.6:c.961-292_961-291del MANE Select | ENSP00000453347.2:n.961-292_961-291del | |
| ENST00000646551.1:n.2575-292_2575-291del | ||
| ENST00000261755.9:c.961-292_961-291del | ENSP00000261755.5:n.961-292_961-291del | |
| ENST00000407106.5:c.961-292_961-291del | ENSP00000385080.1:n.961-292_961-291del | |
| ENST00000539156.5:c.751-292_751-291del | ENSP00000454271.1:n.751-292_751-291del | |
| ENST00000559217.1:n.178-292_178-291del | ||
| ENST00000561353.2:c.59-292_59-291del | ||
| ENST00000561421.5:c.961-292_961-291del | ENSP00000453347.1:n.961-292_961-291del | |
| NM_000137.2:c.961-292_961-291del | NP_000128.1:n.961-292_961-291del | |
| XM_024449872.1:c.961-292_961-291del | XP_024305640.1:n.961-292_961-291del | |
| NM_000137.4:c.961-292_961-291del MANE Select | NP_000128.1:n.961-292_961-291del | |
| NM_001374377.1:c.961-292_961-291del | NP_001361306.1:n.961-292_961-291del | |
| NM_001374380.1:c.961-292_961-291del | NP_001361309.1:n.961-292_961-291del |