Linked Data
dbSNP Id:
rs978027919
gnomAD v2:
16-17232758-T-TCTGA
gnomAD v3:
16-17138901-T-TCTGA
gnomAD v4:
16-17138901-T-TCTGA
MyVariant Identifiers:
chr16:g.17232758_17232759insCTGA (hg19)
chr16:g.17138901_17138902insCTGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138913_17138916dup , CM000678.2:g.17138913_17138916dup | GRCh38 |
| NC_000016.9:g.17232770_17232773dup , CM000678.1:g.17232770_17232773dup | GRCh37 |
| NC_000016.8:g.17140271_17140274dup | NCBI36 |
| NG_015843.1:g.336977_336980dup | |
| NG_015843.2:g.336977_336980dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1588-374_1588-371dup MANE Select | ENSP00000261381.6:n.1588-374_1588-371dup | |
| ENST00000261381.6:c.1588-374_1588-371dup | ENSP00000261381.6:n.1588-374_1588-371dup | |
| NM_022166.3:c.1588-374_1588-371dup | NP_071449.1:n.1588-374_1588-371dup | |
| XM_011522574.1:c.1588-374_1588-371dup | XP_011520876.1:n.1588-374_1588-371dup | |
| XM_017023539.2:c.1588-374_1588-371dup | XP_016879028.1:n.1588-374_1588-371dup | |
| XM_017023540.2:c.1588-374_1588-371dup | XP_016879029.1:n.1588-374_1588-371dup | |
| NM_022166.4:c.1588-374_1588-371dup MANE Select | NP_071449.1:n.1588-374_1588-371dup |