Canonical Allele Identifier: CA636606529
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1281162158
gnomAD v2: 20-56137746-CT-C
gnomAD v3: 20-57562690-CT-C
gnomAD v4: 20-57562690-CT-C
MyVariant Identifiers: chr20:g.56137747del (hg19) chr20:g.57562691del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562691del , CM000682.2:g.57562691del GRCh38
NC_000020.10:g.56137747del , CM000682.1:g.56137747del GRCh37
NC_000020.9:g.55571153del NCBI36
NG_008205.1:g.6611del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.407-5del MANE Select ENSP00000319814.4:n.407-5del
ENST00000319441.5:c.407-5del ENSP00000319814.4:n.407-5del
ENST00000467047.1:n.1612del
ENST00000498194.1:n.344del
NM_002591.3:c.407-5del NP_002582.3:n.407-5del
XM_011528839.1:c.11-5del XP_011527141.1:n.11-5del
XM_024451888.1:c.11-5del XP_024307656.1:n.11-5del
NM_002591.4:c.407-5del MANE Select NP_002582.3:n.407-5del
Search 100 bp 5'
Search 100 bp 3'