Linked Data
dbSNP Id:
rs757123439
gnomAD v2:
7-100244897-T-TCCTGAAATCCC
gnomAD v4:
7-100647274-T-TCCTGAAATCCC
MyVariant Identifiers:
chr7:g.100244897_100244898insCCTGAAATCCC (hg19)
chr7:g.100647274_100647275insCCTGAAATCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100647274_100647275insCCTGAAATCCC , CM000669.2:g.100647274_100647275insCCTGAAATCCC | GRCh38 |
| NC_000007.13:g.100244897_100244898insCCTGAAATCCC , CM000669.1:g.100244897_100244898insCCTGAAATCCC | GRCh37 |
| NC_000007.12:g.100082833_100082834insCCTGAAATCCC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000160382.10:c.769_770insGGGATTTCAGG MANE Select | ENSP00000160382.5:p.Gln257ArgfsTer? | |
| ENST00000160382.9:c.769_770insGGGATTTCAGG | ENSP00000160382.5:p.Gln257ArgfsTer? | |
| ENST00000487125.1:n.305_306insGGGATTTCAGG | ||
| NM_016188.4:c.769_770insGGGATTTCAGG | NP_057272.1:p.Gln257ArgfsTer? | |
| XR_927476.1:n.876_877insGGGATTTCAGG | ||
| NR_134539.1:n.876_877insGGGATTTCAGG | ||
| NM_016188.5:c.769_770insGGGATTTCAGG MANE Select | NP_057272.1:p.Gln257ArgfsTer? | |
| NR_134539.2:n.863_864insGGGATTTCAGG |