Canonical Allele Identifier: CA2403722471
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129734A= , CM000684.2:g.36129734A= GRCh38
NC_000022.10:g.36525782A= , CM000684.1:g.36525782A= GRCh37
NC_000022.9:g.34855728A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_430441.2:n.1547+3428T=
XR_938219.1:n.3124+78T=
XR_938220.1:n.3124+78T=
XR_938221.1:n.1471+4128T=
XR_001755516.2:n.4986+78T=
XR_001755517.2:n.3213+78T=
XR_001755518.2:n.4986+78T=
XR_001755519.2:n.4986+78T=
XR_001755520.2:n.4986+78T=
XR_001755521.2:n.4986+78T=
XR_001755522.2:n.1637-1961T=
XR_001755525.2:n.1637-380T=
XR_001755526.2:n.1637-1961T=
XR_430441.4:n.1636+3428T=