Canonical Allele Identifier: CA528311392

Gene:

Linked Data

• dbSNP Id: rs1276888105
• gnomAD v2: 1-200998528-TCTC-T
• gnomAD v3: 1-201029400-TCTC-T
• gnomAD v4: 1-201029400-TCTC-T
• MyVariant Identifiers: chr1:g.200998529_200998531del (hg19) ; chr1:g.201029401_201029403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201029401_201029403del , CM000663.2:g.201029401_201029403del	GRCh38
NC_000001.10:g.200998529_200998531del , CM000663.1:g.200998529_200998531del	GRCh37
NC_000001.9:g.199265152_199265154del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_241170.3:n.423-1177_423-1175del
XR_922405.1:n.961-1177_961-1175del
XR_922406.1:n.1238+787_1238+789del
XR_922407.1:n.1149-1177_1149-1175del
XR_922408.1:n.327-1177_327-1175del
XR_922409.1:n.961-1177_961-1175del
XR_922410.1:n.349-1177_349-1175del
XR_922411.1:n.941-1177_941-1175del
XR_922412.1:n.1154+787_1154+789del
XR_922413.1:n.1050+787_1050+789del
XR_922414.1:n.258-1177_258-1175del
XR_922415.1:n.961-1177_961-1175del
XR_922416.1:n.267-1177_267-1175del
XR_922417.1:n.845-1177_845-1175del
XR_922418.1:n.961-1177_961-1175del
XR_922419.1:n.960+3782_960+3784del
XR_922420.1:n.961-1177_961-1175del
XR_001738364.1:n.609+787_609+789del
XR_001738365.1:n.520-1177_520-1175del
XR_001738366.1:n.332-1177_332-1175del
XR_001738367.1:n.525+787_525+789del
XR_001738368.1:n.421+787_421+789del
XR_001738369.1:n.332-1177_332-1175del
XR_001738370.1:n.332-1177_332-1175del
XR_001738371.1:n.331+3782_331+3784del
XR_001738372.1:n.332-1177_332-1175del
XR_922405.3:n.1071-1177_1071-1175del
XR_922407.3:n.1259-1177_1259-1175del
XR_922408.2:n.332-1177_332-1175del
XR_922410.2:n.341-1177_341-1175del
XR_922414.2:n.250-1177_250-1175del
XR_922416.2:n.259-1177_259-1175del
XR_922417.3:n.955-1177_955-1175del