Linked Data
dbSNP Id:
rs767167252
gnomAD v2:
16-17232437-A-AGATGAACT
gnomAD v3:
16-17138580-A-AGATGAACT
gnomAD v4:
16-17138580-A-AGATGAACT
MyVariant Identifiers:
chr16:g.17232437_17232438insGATGAACT (hg19)
chr16:g.17138580_17138581insGATGAACT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138582_17138589dup , CM000678.2:g.17138582_17138589dup | GRCh38 |
| NC_000016.9:g.17232439_17232446dup , CM000678.1:g.17232439_17232446dup | GRCh37 |
| NC_000016.8:g.17139940_17139947dup | NCBI36 |
| NG_015843.1:g.337294_337301dup | |
| NG_015843.2:g.337294_337301dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-57_1588-50dup MANE Select | ENSP00000261381.6:n.1588-57_1588-50dup | |
| ENST00000261381.6:c.1588-57_1588-50dup | ENSP00000261381.6:n.1588-57_1588-50dup | |
| NM_022166.3:c.1588-57_1588-50dup | NP_071449.1:n.1588-57_1588-50dup | |
| XM_011522574.1:c.1588-57_1588-50dup | XP_011520876.1:n.1588-57_1588-50dup | |
| XR_933141.1:n.515_522dup | ||
| NR_135179.1:n.487_494dup | ||
| XM_017023539.2:c.1588-57_1588-50dup | XP_016879028.1:n.1588-57_1588-50dup | |
| XM_017023540.2:c.1588-57_1588-50dup | XP_016879029.1:n.1588-57_1588-50dup | |
| NM_022166.4:c.1588-57_1588-50dup MANE Select | NP_071449.1:n.1588-57_1588-50dup |