Canonical Allele Identifier: CA996829045

Gene:

Linked Data

• gnomAD v3: 19-50837883-T-TCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
• gnomAD v4: 19-50837883-T-TCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837883_50837884insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA , CM000681.2:g.50837883_50837884insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA	GRCh38
NC_000019.9:g.51341139_51341140insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA , CM000681.1:g.51341139_51341140insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA	GRCh37
NC_000019.8:g.56032951_56032952insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6590_213+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
NR_131205.1:n.230+6590_230+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
XR_936030.1:n.298+6590_298+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
XR_936031.1:n.298+6590_298+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
XR_936032.1:n.298+6590_298+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
XR_936033.1:n.294+6590_294+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA
XR_936035.1:n.281+6590_281+6591insCTTGAAATCTGTGCCCGGCACTGAGTGAGTGCTGGGCCA