Canonical Allele Identifier: CA10644157
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338908
ClinVar RCV Id: RCV000305081
dbSNP Id: rs141075201
gnomAD v2: 20-56141217-ATG-A
gnomAD v3: 20-57566161-ATG-A
gnomAD v4: 20-57566161-ATG-A
MyVariant Identifiers: chr20:g.56141252_56141253del (hg19) chr20:g.56141226_56141227del (hg19) chr20:g.56141218_56141219del (hg19) chr20:g.57566196_57566197del (hg38) chr20:g.57566170_57566171del (hg38) chr20:g.57566162_57566163del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57566196_57566197del , CM000682.2:g.57566196_57566197del GRCh38
NC_000020.10:g.56141252_56141253del , CM000682.1:g.56141252_56141253del GRCh37
NC_000020.9:g.55574658_55574659del NCBI36
NG_008205.1:g.10116_10117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.*392_*393del MANE Select ENSP00000319814.4:n.*392_*393del
ENST00000319441.5:c.*392_*393del ENSP00000319814.4:n.*392_*393del
ENST00000467047.1:n.4903_4904del
NM_002591.3:c.*392_*393del NP_002582.3:n.*392_*393del
XM_011528839.1:c.*392_*393del XP_011527141.1:n.*392_*393del
XM_024451888.1:c.*392_*393del XP_024307656.1:n.*392_*393del
NM_002591.4:c.*392_*393del MANE Select NP_002582.3:n.*392_*393del
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