Canonical Allele Identifier: CA1011167833

Gene:

Linked Data

• dbSNP Id: rs1659427045
• gnomAD v3: 1-201029475-A-AC
• gnomAD v4: 1-201029475-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029475_201029476insC , CM000663.2:g.201029475_201029476insC	GRCh38
NC_000001.10:g.200998603_200998604insC , CM000663.1:g.200998603_200998604insC	GRCh37
NC_000001.9:g.199265226_199265227insC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_241170.3:n.423-1103_423-1102insC
XR_922405.1:n.961-1103_961-1102insC
XR_922406.1:n.1238+861_1238+862insC
XR_922407.1:n.1149-1103_1149-1102insC
XR_922408.1:n.327-1103_327-1102insC
XR_922409.1:n.961-1103_961-1102insC
XR_922410.1:n.349-1103_349-1102insC
XR_922411.1:n.941-1103_941-1102insC
XR_922412.1:n.1154+861_1154+862insC
XR_922413.1:n.1050+861_1050+862insC
XR_922414.1:n.258-1103_258-1102insC
XR_922415.1:n.961-1103_961-1102insC
XR_922416.1:n.267-1103_267-1102insC
XR_922417.1:n.845-1103_845-1102insC
XR_922418.1:n.961-1103_961-1102insC
XR_922419.1:n.960+3856_960+3857insC
XR_922420.1:n.961-1103_961-1102insC
XR_001738364.1:n.609+861_609+862insC
XR_001738365.1:n.520-1103_520-1102insC
XR_001738366.1:n.332-1103_332-1102insC
XR_001738367.1:n.525+861_525+862insC
XR_001738368.1:n.421+861_421+862insC
XR_001738369.1:n.332-1103_332-1102insC
XR_001738370.1:n.332-1103_332-1102insC
XR_001738371.1:n.331+3856_331+3857insC
XR_001738372.1:n.332-1103_332-1102insC
XR_922405.3:n.1071-1103_1071-1102insC
XR_922407.3:n.1259-1103_1259-1102insC
XR_922408.2:n.332-1103_332-1102insC
XR_922410.2:n.341-1103_341-1102insC
XR_922414.2:n.250-1103_250-1102insC
XR_922416.2:n.259-1103_259-1102insC
XR_922417.3:n.955-1103_955-1102insC