Linked Data
dbSNP Id:
rs1241036562
gnomAD v2:
5-150240161-A-ATAAT
gnomAD v3:
5-150860599-A-ATAAT
gnomAD v4:
5-150860599-A-ATAAT
MyVariant Identifiers:
chr5:g.150240161_150240162insTAAT (hg19)
chr5:g.150860599_150860600insTAAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860602_150860605dup , CM000667.2:g.150860602_150860605dup | GRCh38 |
| NC_000005.9:g.150240164_150240167dup , CM000667.1:g.150240164_150240167dup | GRCh37 |
| NC_000005.8:g.150220357_150220360dup | NCBI36 |
| NG_027809.2:g.19080_19083dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520549.1:c.158+11948_158+11951dup | ||
| XM_011537641.1:c.531+11948_531+11951dup | XP_011535943.1:n.531+11948_531+11951dup | |
| NM_001346557.1:c.531+11948_531+11951dup | NP_001333486.1:n.531+11948_531+11951dup | |
| NM_001346557.2:c.531+11948_531+11951dup | NP_001333486.1:n.531+11948_531+11951dup | |
| NR_170598.1:n.1646+11948_1646+11951dup |