Canonical Allele Identifier: CA1077893090

Gene:

Linked Data

• dbSNP Id: rs1753647397
• gnomAD v3: 5-79549980-C-CTGAGGCGGGTGGATTGCT
• gnomAD v4: 5-79549980-C-CTGAGGCGGGTGGATTGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.79549982_79549999dup , CM000667.2:g.79549982_79549999dup	GRCh38
NC_000005.9:g.78845805_78845822dup , CM000667.1:g.78845805_78845822dup	GRCh37
NC_000005.8:g.78881561_78881578dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_948497.1:n.72+2338_72+2355dup
XR_948498.1:n.159+2145_159+2162dup
XR_948499.1:n.67+1680_67+1697dup
XR_948497.2:n.72+2338_72+2355dup
XR_948498.2:n.159+2145_159+2162dup
XR_948499.2:n.225+1680_225+1697dup