Linked Data
dbSNP Id:
rs1366609498
gnomAD v2:
7-100244483-G-GCT
gnomAD v4:
7-100646860-G-GCT
MyVariant Identifiers:
chr7:g.100244483_100244484insCT (hg19)
chr7:g.100646860_100646861insCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100646866_100646867dup , CM000669.2:g.100646866_100646867dup | GRCh38 |
| NC_000007.13:g.100244489_100244490dup , CM000669.1:g.100244489_100244490dup | GRCh37 |
| NC_000007.12:g.100082425_100082426dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.937-31_937-30dup MANE Select | ENSP00000160382.5:n.937-31_937-30dup | |
| ENST00000160382.9:c.937-31_937-30dup | ENSP00000160382.5:n.937-31_937-30dup | |
| ENST00000487125.1:n.499-31_499-30dup | ||
| NM_016188.4:c.937-31_937-30dup | NP_057272.1:n.937-31_937-30dup | |
| XR_927476.1:n.1044-31_1044-30dup | ||
| NR_134539.1:n.1044-31_1044-30dup | ||
| NM_016188.5:c.937-31_937-30dup MANE Select | NP_057272.1:n.937-31_937-30dup | |
| NR_134539.2:n.1031-31_1031-30dup |