Canonical Allele Identifier: CA3064412973
Community Standard Title: NC_000024.10:g.8722725del
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8722725del , CM000686.2:g.8722725del GRCh38
NC_000024.9:g.8590766del , CM000686.1:g.8590766del GRCh37
NC_000024.8:g.8650766del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.196+398del ENSP00000485446.1:n.196+398del
ENST00000624237.1:c.63+11773del ENSP00000485137.1:n.63+11773del
ENST00000624593.1:c.-57+25991del ENSP00000485106.1:n.-57+25991del
XR_938653.1:n.40-99del
XR_938654.1:n.189-99del
XR_938654.2:n.189-99del