Canonical Allele Identifier: CA10611198
Gene: CLDN19 HGNC NCBI

Linked Data

ClinVar Variation Id: 297332
ClinVar RCV Id: RCV000322683
dbSNP Id: rs138777333
gnomAD v2: 1-43200226-TG-T
gnomAD v3: 1-42734555-TG-T
gnomAD v4: 1-42734555-TG-T
MyVariant Identifiers: chr1:g.43200227del (hg19) chr1:g.42734556del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42734556del , CM000663.2:g.42734556del GRCh38
NC_000001.10:g.43200227del , CM000663.1:g.43200227del GRCh37
NC_000001.9:g.42972814del NCBI36
NG_008993.1:g.10699del

Transcript Alleles

HGVS Amino-acid change
ENST00000296387.6:c.*530del MANE Select ENSP00000296387.1:n.*530del
ENST00000296387.5:c.*530del ENSP00000296387.1:n.*530del
ENST00000539749.5:c.*1206del ENSP00000443229.1:n.*1206del
NM_001123395.1:c.*1312del NP_001116867.1:n.*1312del
NM_001185117.1:c.*1206del NP_001172046.1:n.*1206del
NM_148960.2:c.*530del NP_683763.2:n.*530del
NM_001123395.2:c.*1312del NP_001116867.1:n.*1312del
NM_148960.3:c.*530del MANE Select NP_683763.2:n.*530del
NM_001185117.2:c.*1206del NP_001172046.1:n.*1206del
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