Canonical Allele Identifier: CA10653269
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 338910
ClinVar RCV Id: RCV000269954
dbSNP Id: rs141075201
gnomAD v2: 20-56141217-ATGTG-A
gnomAD v3: 20-57566161-ATGTG-A
gnomAD v4: 20-57566161-ATGTG-A
MyVariant Identifiers: chr20:g.56141250_56141253del (hg19) chr20:g.56141224_56141227del (hg19) chr20:g.56141222_56141225del (hg19) chr20:g.56141218_56141221del (hg19) chr20:g.57566194_57566197del (hg38) chr20:g.57566168_57566171del (hg38) chr20:g.57566162_57566165del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57566194_57566197del , CM000682.2:g.57566194_57566197del GRCh38
NC_000020.10:g.56141250_56141253del , CM000682.1:g.56141250_56141253del GRCh37
NC_000020.9:g.55574656_55574659del NCBI36
NG_008205.1:g.10114_10117del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.*390_*393del MANE Select ENSP00000319814.4:n.*390_*393del
ENST00000319441.5:c.*390_*393del ENSP00000319814.4:n.*390_*393del
ENST00000467047.1:n.4901_4904del
NM_002591.3:c.*390_*393del NP_002582.3:n.*390_*393del
XM_011528839.1:c.*390_*393del XP_011527141.1:n.*390_*393del
XM_024451888.1:c.*390_*393del XP_024307656.1:n.*390_*393del
NM_002591.4:c.*390_*393del MANE Select NP_002582.3:n.*390_*393del
Search 100 bp 5'
Search 100 bp 3'