Linked Data
dbSNP Id:
rs1183697270
MyVariant Identifiers:
chr15:g.39873472_39873473insACATC (hg19)
chr15:g.39581271_39581272insACATC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39581272_39581276dup , CM000677.2:g.39581272_39581276dup | GRCh38 |
| NC_000015.9:g.39873473_39873477dup , CM000677.1:g.39873473_39873477dup | GRCh37 |
| NC_000015.8:g.37660765_37660769dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260356.6:c.-30+44_-30+48dup MANE Select | ENSP00000260356.5:n.-30+44_-30+48dup | |
| ENST00000260356.5:c.-30+44_-30+48dup | ENSP00000260356.5:n.-30+44_-30+48dup | |
| ENST00000397591.2:c.-151+44_-151+48dup | ENSP00000380720.2:n.-151+44_-151+48dup | |
| NM_003246.2:c.-30+44_-30+48dup | NP_003237.2:n.-30+44_-30+48dup | |
| NM_003246.3:c.-30+44_-30+48dup | NP_003237.2:n.-30+44_-30+48dup | |
| XM_011521970.1:c.-151+44_-151+48dup | XP_011520272.1:n.-151+44_-151+48dup | |
| XM_011521971.1:c.-30+44_-30+48dup | XP_011520273.1:n.-30+44_-30+48dup | |
| XR_931897.1:n.146+44_146+48dup | ||
| XM_011521971.2:c.-30+44_-30+48dup | XP_011520273.1:n.-30+44_-30+48dup | |
| NM_003246.4:c.-30+44_-30+48dup MANE Select | NP_003237.2:n.-30+44_-30+48dup |