Canonical Allele Identifier: CA2122202288
Gene:

Linked Data

dbSNP Id: rs1879070502

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20793567_20793568del , CM000676.2:g.20793567_20793568del GRCh38
NC_000014.8:g.21261726_21261727del , CM000676.1:g.21261726_21261727del GRCh37
NC_000014.7:g.20331566_20331567del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_943584.1:n.585+781_585+782del
XR_943585.1:n.585+781_585+782del
XR_001750620.1:n.3271+781_3271+782del
XR_001750621.1:n.3271+781_3271+782del
XR_001750622.1:n.637+6336_637+6337del
XR_001750623.1:n.637+6336_637+6337del
XR_001750624.1:n.637+6336_637+6337del