Canonical Allele Identifier: CA559031358
Gene: CPLANE1 HGNC NCBI
CPLANE1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1468434868
gnomAD v2: 5-37249494-G-GGGGGCGCGGGCGCTGCC
gnomAD v3: 5-37249392-G-GGGGGCGCGGGCGCTGCC
gnomAD v4: 5-37249392-G-GGGGGCGCGGGCGCTGCC
MyVariant Identifiers: chr5:g.37249494_37249495insGGGGCGCGGGCGCTGCC (hg19) chr5:g.37249392_37249393insGGGGCGCGGGCGCTGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37249393_37249409dup , CM000667.2:g.37249393_37249409dup GRCh38
NC_000005.9:g.37249495_37249511dup , CM000667.1:g.37249495_37249511dup GRCh37
NC_000005.8:g.37285252_37285268dup NCBI36
NG_032772.1:g.5020_5036dup
NG_032772.2:g.5020_5036dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000425232.6:c.-212_-196dup (CPLANE1) ENSP00000389014.2:n.-212_-196dup
NM_023073.3:c.-212_-196dup (CPLANE1) NP_075561.3:n.-212_-196dup
XR_925921.1:n.171+172_171+188dup (CPLANE1-AS1)
NR_134263.1:n.176+172_176+188dup (CPLANE1-AS1)
XM_005248345.4:c.-212_-196dup (CPLANE1) XP_005248402.1:n.-212_-196dup
XM_005248346.4:c.-212_-196dup (CPLANE1) XP_005248403.1:n.-212_-196dup
XM_005248347.4:c.-212_-196dup (CPLANE1) XP_005248404.1:n.-212_-196dup
XM_005248349.4:c.-212_-196dup (CPLANE1) XP_005248406.1:n.-212_-196dup
XM_005248350.4:c.-212_-196dup (CPLANE1) XP_005248407.1:n.-212_-196dup
XM_011514087.2:c.-212_-196dup (CPLANE1) XP_011512389.1:n.-212_-196dup
XM_011514088.2:c.-212_-196dup (CPLANE1) XP_011512390.1:n.-212_-196dup
XM_011514089.2:c.-212_-196dup (CPLANE1) XP_011512391.1:n.-212_-196dup
XM_011514092.2:c.-212_-196dup (CPLANE1) XP_011512394.1:n.-212_-196dup
XR_001742208.1:n.13_29dup (CPLANE1)
XR_002956171.1:n.13_29dup (CPLANE1)
XR_925644.2:n.13_29dup (CPLANE1)
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