Canonical Allele Identifier: CA2216888476
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.31090818_31090820delinsCCA , CM000678.2:g.31090818_31090820delinsCCA GRCh38
NC_000016.9:g.31102139_31102141delinsCCA , CM000678.1:g.31102139_31102141delinsCCA GRCh37
NC_000016.8:g.31009640_31009642delinsCCA NCBI36
NG_011564.1:g.9136_9138delinsTGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000529564.1:c.283+2492_283+2494delinsTGG ENSP00000431371.1:n.283+2492_283+2494delinsTGG
ENST00000532364.1:c.173+3737_173+3739delinsTGG ENSP00000460316.1:n.173+3737_173+3739delinsTGG
ENST00000533518.5:c.407+272_407+274delinsTGG