Canonical Allele Identifier: CA2327233130
Gene:

Linked Data

dbSNP Id: rs2090127550

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.20218134del , CM000681.2:g.20218134del GRCh38
NC_000019.9:g.20328943del , CM000681.1:g.20328943del GRCh37
NC_000019.8:g.20189943del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_936388.1:n.619-816del
XR_936389.1:n.502-816del
XR_936390.1:n.511-816del
XR_936391.1:n.514-816del
XR_936392.1:n.514-816del
XR_936394.1:n.41-600del
XR_001754063.2:n.1506-816del
XR_001754064.2:n.138-816del
XR_001754066.1:n.3912-816del
XR_001754067.1:n.3912-816del
XR_001754068.1:n.3912-816del
XR_936394.2:n.41-600del
XR_936406.2:n.1411-816del