Linked Data
dbSNP Id:
rs1040814968
gnomAD v3:
16-17138732-A-ACCAAG
gnomAD v4:
16-17138732-A-ACCAAG
MyVariant Identifiers:
chr16:g.17232589_17232590insCCAAG (hg19)
chr16:g.17138732_17138733insCCAAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138735_17138739dup , CM000678.2:g.17138735_17138739dup | GRCh38 |
| NC_000016.9:g.17232592_17232596dup , CM000678.1:g.17232592_17232596dup | GRCh37 |
| NC_000016.8:g.17140093_17140097dup | NCBI36 |
| NG_015843.1:g.337145_337149dup | |
| NG_015843.2:g.337145_337149dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-206_1588-202dup MANE Select | ENSP00000261381.6:n.1588-206_1588-202dup | |
| ENST00000261381.6:c.1588-206_1588-202dup | ENSP00000261381.6:n.1588-206_1588-202dup | |
| NM_022166.3:c.1588-206_1588-202dup | NP_071449.1:n.1588-206_1588-202dup | |
| XM_011522574.1:c.1588-206_1588-202dup | XP_011520876.1:n.1588-206_1588-202dup | |
| XM_017023539.2:c.1588-206_1588-202dup | XP_016879028.1:n.1588-206_1588-202dup | |
| XM_017023540.2:c.1588-206_1588-202dup | XP_016879029.1:n.1588-206_1588-202dup | |
| NM_022166.4:c.1588-206_1588-202dup MANE Select | NP_071449.1:n.1588-206_1588-202dup |