Linked Data
dbSNP Id:
rs1472064516
gnomAD v3:
12-91107203-G-GAAAGAAA
gnomAD v4:
12-91107203-G-GAAAGAAA
MyVariant Identifiers:
chr12:g.91500980_91500981insAAAGAAA (hg19)
chr12:g.91107203_91107204insAAAGAAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.91107204_91107210dup , CM000674.2:g.91107204_91107210dup | GRCh38 |
| NC_000012.11:g.91500981_91500987dup , CM000674.1:g.91500981_91500987dup | GRCh37 |
| NC_000012.10:g.90025112_90025118dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266718.5:c.862+908_862+914dup MANE Select | ENSP00000266718.4:n.862+908_862+914dup | |
| ENST00000266718.4:c.862+908_862+914dup | ENSP00000266718.4:n.862+908_862+914dup | |
| ENST00000546642.1:n.612+908_612+914dup | ||
| ENST00000548071.1:n.255+908_255+914dup | ||
| NM_002345.3:c.862+908_862+914dup | NP_002336.1:n.862+908_862+914dup | |
| NM_002345.4:c.862+908_862+914dup MANE Select | NP_002336.1:n.862+908_862+914dup |