Canonical Allele Identifier: CA2403722520
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36129893G= , CM000684.2:g.36129893G= GRCh38
NC_000022.10:g.36525941G= , CM000684.1:g.36525941G= GRCh37
NC_000022.9:g.34855887G= NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_430441.2:n.1547+3269C=
XR_938219.1:n.3043C=
XR_938220.1:n.3043C=
XR_938221.1:n.1471+3969C=
XR_001755516.2:n.4905C=
XR_001755517.2:n.3132C=
XR_001755518.2:n.4905C=
XR_001755519.2:n.4905C=
XR_001755520.2:n.4905C=
XR_001755521.2:n.4905C=
XR_001755522.2:n.1637-2120C=
XR_001755525.2:n.1637-539C=
XR_001755526.2:n.1637-2120C=
XR_430441.4:n.1636+3269C=