Canonical Allele Identifier: CA1365145590
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.53056947_53056951delinsGTGTT , CM000665.2:g.53056947_53056951delinsGTGTT GRCh38
NC_000003.11:g.53090963_53090967delinsGTGTT , CM000665.1:g.53090963_53090967delinsGTGTT GRCh37
NC_000003.10:g.53066003_53066007delinsGTGTT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000607203.1:c.318-9712_318-9708delinsAACAC
ENST00000607283.5:c.465-13697_465-13693delinsAACAC
ENST00000607495.5:c.447+20737_447+20741delinsAACAC