Canonical Allele Identifier: CA212313
Gene:

Linked Data

ClinVar Variation Id: 157224
ClinVar RCV Id: RCV000161650

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.104883774_104890545del , CM000673.2:g.104883774_104890545del GRCh38
NG_028201.2:g.13127_19898del

Transcript Alleles

HGVS Amino-acid Change
XR_001748349.1:n.612+3672_613-671del
XR_001748350.1:n.506-7442_506-671del