Canonical Allele Identifier: CA745920913
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1349583670
gnomAD v3: 20-57562626-G-GA
gnomAD v4: 20-57562626-G-GA
MyVariant Identifiers: chr20:g.56137682_56137683insA (hg19) chr20:g.57562626_57562627insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562633dup , CM000682.2:g.57562633dup GRCh38
NC_000020.10:g.56137689dup , CM000682.1:g.56137689dup GRCh37
NC_000020.9:g.55571095dup NCBI36
NG_008205.1:g.6553dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.407-63dup MANE Select ENSP00000319814.4:n.407-63dup
ENST00000319441.5:c.407-63dup ENSP00000319814.4:n.407-63dup
ENST00000467047.1:n.1554dup
ENST00000498194.1:n.286dup
NM_002591.3:c.407-63dup NP_002582.3:n.407-63dup
XM_011528839.1:c.11-63dup XP_011527141.1:n.11-63dup
XM_024451888.1:c.11-63dup XP_024307656.1:n.11-63dup
NM_002591.4:c.407-63dup MANE Select NP_002582.3:n.407-63dup
Search 100 bp 5'
Search 100 bp 3'