Canonical Allele Identifier: CA528311390

Gene:

Linked Data

• dbSNP Id: rs1331532969
• gnomAD v2: 1-200998444-CCT-C
• gnomAD v3: 1-201029316-CCT-C
• gnomAD v4: 1-201029316-CCT-C
• MyVariant Identifiers: chr1:g.200998445_200998446del (hg19) ; chr1:g.201029317_201029318del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029319_201029320del , CM000663.2:g.201029319_201029320del	GRCh38
NC_000001.10:g.200998447_200998448del , CM000663.1:g.200998447_200998448del	GRCh37
NC_000001.9:g.199265070_199265071del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_241170.3:n.423-1259_423-1258del
XR_922405.1:n.961-1259_961-1258del
XR_922406.1:n.1238+705_1238+706del
XR_922407.1:n.1149-1259_1149-1258del
XR_922408.1:n.327-1259_327-1258del
XR_922409.1:n.961-1259_961-1258del
XR_922410.1:n.349-1259_349-1258del
XR_922411.1:n.941-1259_941-1258del
XR_922412.1:n.1154+705_1154+706del
XR_922413.1:n.1050+705_1050+706del
XR_922414.1:n.258-1259_258-1258del
XR_922415.1:n.961-1259_961-1258del
XR_922416.1:n.267-1259_267-1258del
XR_922417.1:n.845-1259_845-1258del
XR_922418.1:n.961-1259_961-1258del
XR_922419.1:n.960+3700_960+3701del
XR_922420.1:n.961-1259_961-1258del
XR_001738364.1:n.609+705_609+706del
XR_001738365.1:n.520-1259_520-1258del
XR_001738366.1:n.332-1259_332-1258del
XR_001738367.1:n.525+705_525+706del
XR_001738368.1:n.421+705_421+706del
XR_001738369.1:n.332-1259_332-1258del
XR_001738370.1:n.332-1259_332-1258del
XR_001738371.1:n.331+3700_331+3701del
XR_001738372.1:n.332-1259_332-1258del
XR_922405.3:n.1071-1259_1071-1258del
XR_922407.3:n.1259-1259_1259-1258del
XR_922408.2:n.332-1259_332-1258del
XR_922410.2:n.341-1259_341-1258del
XR_922414.2:n.250-1259_250-1258del
XR_922416.2:n.259-1259_259-1258del
XR_922417.3:n.955-1259_955-1258del