Linked Data
dbSNP Id:
rs1367674652
gnomAD v3:
14-95298137-A-AACCCC
gnomAD v4:
14-95298137-A-AACCCC
MyVariant Identifiers:
chr14:g.95764474_95764475insACCCC (hg19)
chr14:g.95298137_95298138insACCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.95298147_95298151dup , CM000676.2:g.95298147_95298151dup | GRCh38 |
| NC_000014.8:g.95764484_95764488dup , CM000676.1:g.95764484_95764488dup | GRCh37 |
| NC_000014.7:g.94834237_94834241dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298912.9:c.82+21569_82+21573dup MANE Select | ENSP00000298912.3:n.82+21569_82+21573dup | |
| ENST00000298912.8:c.82+21569_82+21573dup | ENSP00000298912.3:n.82+21569_82+21573dup | |
| ENST00000553733.1:c.82+21569_82+21573dup | ENSP00000451189.1:n.82+21569_82+21573dup | |
| ENST00000555615.1:c.-123+9372_-123+9376dup | ENSP00000452525.1:n.-123+9372_-123+9376dup | |
| NM_024734.3:c.82+21569_82+21573dup | NP_079010.2:n.82+21569_82+21573dup | |
| XM_011537158.1:c.82+21569_82+21573dup | XP_011535460.1:n.82+21569_82+21573dup | |
| XM_011537159.1:c.82+21569_82+21573dup | XP_011535461.1:n.82+21569_82+21573dup | |
| XR_245721.2:n.194+21569_194+21573dup | ||
| XR_429330.2:n.194+21569_194+21573dup | ||
| XR_429332.2:n.194+21569_194+21573dup | ||
| XM_011537159.2:c.82+21569_82+21573dup | XP_011535461.1:n.82+21569_82+21573dup | |
| XM_017021646.1:c.22+21097_22+21101dup | XP_016877135.1:n.22+21097_22+21101dup | |
| XM_017021647.1:c.82+21569_82+21573dup | XP_016877136.1:n.82+21569_82+21573dup | |
| XR_001750558.1:n.194+21569_194+21573dup | ||
| NM_024734.4:c.82+21569_82+21573dup MANE Select | NP_079010.2:n.82+21569_82+21573dup |