Linked Data
dbSNP Id:
rs2087002374
gnomAD v3:
10-104124270-CTCCAGATTTAGA-C
gnomAD v4:
10-104124270-CTCCAGATTTAGA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104124271_104124282del , CM000672.2:g.104124271_104124282del | GRCh38 |
| NC_000010.10:g.105884029_105884040del , CM000672.1:g.105884029_105884040del | GRCh37 |
| NC_000010.9:g.105874019_105874030del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369727.4:c.546+147_546+158del MANE Select | ENSP00000358742.3:n.546+147_546+158del | |
| ENST00000369727.3:c.546+147_546+158del | ENSP00000358742.3:n.546+147_546+158del | |
| ENST00000369729.7:c.507+147_507+158del | ENSP00000358744.3:n.507+147_507+158del | |
| NM_001002759.1:c.546+147_546+158del | NP_001002759.1:n.546+147_546+158del | |
| NM_145247.4:c.507+147_507+158del | NP_660290.3:n.507+147_507+158del | |
| XM_005269521.2:c.732+147_732+158del | XP_005269578.1:n.732+147_732+158del | |
| XM_005269521.3:c.732+147_732+158del | XP_005269578.1:n.732+147_732+158del | |
| XM_017015672.1:c.507+147_507+158del | XP_016871161.1:n.507+147_507+158del | |
| NM_001002759.2:c.546+147_546+158del MANE Select | NP_001002759.1:n.546+147_546+158del | |
| NM_001384829.1:c.507+147_507+158del | NP_001371758.1:n.507+147_507+158del | |
| NM_001384830.1:c.507+147_507+158del | NP_001371759.1:n.507+147_507+158del | |
| NM_145247.5:c.507+147_507+158del | NP_660290.3:n.507+147_507+158del |