Canonical Allele Identifier: CA1500737908
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559616_144559621delinsGAAGTA , CM000666.2:g.144559616_144559621delinsGAAGTA GRCh38
NC_000004.11:g.145480768_145480773delinsGAAGTA , CM000666.1:g.145480768_145480773delinsGAAGTA GRCh37
NC_000004.10:g.145700218_145700223delinsGAAGTA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143643_328-143638delinsTACTTC ENSP00000497507.1:n.328-143643_328-143638delinsTACTTC
XR_939272.1:n.178+2363_178+2368delinsTACTTC
XR_939273.1:n.178+2363_178+2368delinsTACTTC
XR_939272.2:n.522+2363_522+2368delinsTACTTC
XR_939273.2:n.522+2363_522+2368delinsTACTTC