Linked Data
dbSNP Id:
rs777788182
gnomAD v2:
16-17232195-C-CCATGAGAAAGT
gnomAD v4:
16-17138338-C-CCATGAGAAAGT
MyVariant Identifiers:
chr16:g.17232195_17232196insCATGAGAAAGT (hg19)
chr16:g.17138338_17138339insCATGAGAAAGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138340_17138350dup , CM000678.2:g.17138340_17138350dup | GRCh38 |
| NC_000016.9:g.17232197_17232207dup , CM000678.1:g.17232197_17232207dup | GRCh37 |
| NC_000016.8:g.17139698_17139708dup | NCBI36 |
| NG_015843.1:g.337533_337543dup | |
| NG_015843.2:g.337533_337543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1764+6_1764+16dup MANE Select | ENSP00000261381.6:n.1764+6_1764+16dup | |
| ENST00000261381.6:c.1764+6_1764+16dup | ENSP00000261381.6:n.1764+6_1764+16dup | |
| NM_022166.3:c.1764+6_1764+16dup | NP_071449.1:n.1764+6_1764+16dup | |
| XM_011522574.1:c.1764+6_1764+16dup | XP_011520876.1:n.1764+6_1764+16dup | |
| XR_933141.1:n.273_283dup | ||
| NR_135179.1:n.245_255dup | ||
| XM_017023539.2:c.1764+6_1764+16dup | XP_016879028.1:n.1764+6_1764+16dup | |
| XM_017023540.2:c.1764+6_1764+16dup | XP_016879029.1:n.1764+6_1764+16dup | |
| NM_022166.4:c.1764+6_1764+16dup MANE Select | NP_071449.1:n.1764+6_1764+16dup |