Canonical Allele Identifier: CA810319487
Gene: CPLANE1-AS1 HGNC NCBI
CPLANE1 HGNC NCBI

Linked Data

dbSNP Id: rs1159181151
gnomAD v3: 5-37249454-C-CCCCGGTCCTCCGCCCCTCCAG
gnomAD v4: 5-37249454-C-CCCCGGTCCTCCGCCCCTCCAG
MyVariant Identifiers: chr5:g.37249556_37249557insCCCGGTCCTCCGCCCCTCCAG (hg19) chr5:g.37249454_37249455insCCCGGTCCTCCGCCCCTCCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249458_37249478dup , CM000667.2:g.37249458_37249478dup GRCh38
NC_000005.9:g.37249560_37249580dup , CM000667.1:g.37249560_37249580dup GRCh37
NC_000005.8:g.37285317_37285337dup NCBI36
NG_032772.1:g.4954_4974dup
NG_032772.2:g.4954_4974dup

Transcript Alleles

HGVS Amino-acid Change
XR_925921.1:n.171+237_171+257dup (CPLANE1-AS1)
NR_134263.1:n.176+237_176+257dup (CPLANE1-AS1)
XM_005248345.4:c.-278_-258dup (CPLANE1) XP_005248402.1:n.-278_-258dup
XM_005248346.4:c.-278_-258dup (CPLANE1) XP_005248403.1:n.-278_-258dup
XM_005248347.4:c.-278_-258dup (CPLANE1) XP_005248404.1:n.-278_-258dup
XM_005248349.4:c.-278_-258dup (CPLANE1) XP_005248406.1:n.-278_-258dup
XM_005248350.4:c.-278_-258dup (CPLANE1) XP_005248407.1:n.-278_-258dup
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