Canonical Allele Identifier: CA514339927
Gene:

Linked Data

dbSNP Id: rs2059867930

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129876dup , CM000684.2:g.36129876dup GRCh38
NC_000022.10:g.36525924dup , CM000684.1:g.36525924dup GRCh37
NC_000022.9:g.34855870dup NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3286dup
XR_938219.1:n.3060dup
XR_938220.1:n.3060dup
XR_938221.1:n.1471+3986dup
XR_001755516.2:n.4922dup
XR_001755517.2:n.3149dup
XR_001755518.2:n.4922dup
XR_001755519.2:n.4922dup
XR_001755520.2:n.4922dup
XR_001755521.2:n.4922dup
XR_001755522.2:n.1637-2103dup
XR_001755525.2:n.1637-522dup
XR_001755526.2:n.1637-2103dup
XR_430441.4:n.1636+3286dup