Canonical Allele Identifier: CA996828910

Gene:

Linked Data

• gnomAD v3: 19-50837506-ATCAGGCTGAGGCTTGC-A
• gnomAD v4: 19-50837506-ATCAGGCTGAGGCTTGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.50837507_50837522del , CM000681.2:g.50837507_50837522del	GRCh38
NC_000019.9:g.51340763_51340778del , CM000681.1:g.51340763_51340778del	GRCh37
NC_000019.8:g.56032575_56032590del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_131203.1:n.213+6214_213+6229del
NR_131205.1:n.230+6214_230+6229del
XR_936030.1:n.298+6214_298+6229del
XR_936031.1:n.298+6214_298+6229del
XR_936032.1:n.298+6214_298+6229del
XR_936033.1:n.294+6214_294+6229del
XR_936035.1:n.281+6214_281+6229del