Canonical Allele Identifier: CA2603062607

Gene:

Linked Data

• gnomAD v3: 11-116072480-C-CTAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTT
• gnomAD v4: 11-116072480-C-CTAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116072481_116072482insAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTTT , CM000673.2:g.116072481_116072482insAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTTT	GRCh38
NC_000011.9:g.115943199_115943200insAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTTT , CM000673.1:g.115943199_115943200insAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTTT	GRCh37
NC_000011.8:g.115448409_115448410insAGGGTCTGGGGCATCTCTCTCTAGGGAGGTATTGCCCCAGGCCAGCTTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948055.1:n.192+533_192+534insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_948056.1:n.311-5276_311-5275insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_948057.1:n.97+628_97+629insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_001748401.1:n.192+533_192+534insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_948055.2:n.192+533_192+534insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_948056.2:n.314-5276_314-5275insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA
XR_948057.2:n.97+628_97+629insAAGCTGGCCTGGGGCAATACCTCCCTAGAGAGAGATGCCCCAGACCCTA