Canonical Allele Identifier: CA636606550
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1459492543
gnomAD v2: 20-56140416-C-CA
gnomAD v4: 20-57565360-C-CA
MyVariant Identifiers: chr20:g.56140416_56140417insA (hg19) chr20:g.57565360_57565361insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565361dup , CM000682.2:g.57565361dup GRCh38
NC_000020.10:g.56140417dup , CM000682.1:g.56140417dup GRCh37
NC_000020.9:g.55573823dup NCBI36
NG_008205.1:g.9281dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1426dup MANE Select ENSP00000319814.4:p.Met476AsnfsTer3
ENST00000319441.5:c.1426dup ENSP00000319814.4:p.Met476AsnfsTer3
ENST00000467047.1:n.4068dup
ENST00000485958.1:n.550dup
NM_002591.3:c.1426dup NP_002582.3:p.Met476AsnfsTer3
XM_011528839.1:c.1030dup XP_011527141.1:p.Met344AsnfsTer3
XM_024451888.1:c.1030dup XP_024307656.1:p.Met344AsnfsTer3
NM_002591.4:c.1426dup MANE Select NP_002582.3:p.Met476AsnfsTer3
Search 100 bp 5'
Search 100 bp 3'