Linked Data
dbSNP Id:
rs1257442844
MyVariant Identifiers:
chr12:g.91500984_91500985insAAAGAAA (hg19)
chr12:g.91107207_91107208insAAAGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107208_91107214dup , CM000674.2:g.91107208_91107214dup | GRCh38 |
| NC_000012.11:g.91500985_91500991dup , CM000674.1:g.91500985_91500991dup | GRCh37 |
| NC_000012.10:g.90025116_90025122dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+904_862+910dup MANE Select | ENSP00000266718.4:n.862+904_862+910dup | |
| ENST00000266718.4:c.862+904_862+910dup | ENSP00000266718.4:n.862+904_862+910dup | |
| ENST00000546642.1:n.612+904_612+910dup | ||
| ENST00000548071.1:n.255+904_255+910dup | ||
| NM_002345.3:c.862+904_862+910dup | NP_002336.1:n.862+904_862+910dup | |
| NM_002345.4:c.862+904_862+910dup MANE Select | NP_002336.1:n.862+904_862+910dup |