Canonical Allele Identifier: CA2002397795

Gene:

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072630_116072639delinsGCCTGCAAAA , CM000673.2:g.116072630_116072639delinsGCCTGCAAAA	GRCh38
NC_000011.9:g.115943348_115943357delinsGCCTGCAAAA , CM000673.1:g.115943348_115943357delinsGCCTGCAAAA	GRCh37
NC_000011.8:g.115448558_115448567delinsGCCTGCAAAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+375_192+384delinsTTTTGCAGGC
XR_948056.1:n.311-5434_311-5425delinsTTTTGCAGGC
XR_948057.1:n.97+470_97+479delinsTTTTGCAGGC
XR_001748401.1:n.192+375_192+384delinsTTTTGCAGGC
XR_948055.2:n.192+375_192+384delinsTTTTGCAGGC
XR_948056.2:n.314-5434_314-5425delinsTTTTGCAGGC
XR_948057.2:n.97+470_97+479delinsTTTTGCAGGC