Canonical Allele Identifier: CA2737099134
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146531162
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565576del , CM000682.2:g.57565576del GRCh38
NC_000020.10:g.56140632del , CM000682.1:g.56140632del GRCh37
NC_000020.9:g.55574038del NCBI36
NG_008205.1:g.9496del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1641del MANE Select ENSP00000319814.4:p.Ala548ProfsTer8
ENST00000319441.5:c.1641del ENSP00000319814.4:p.Ala548ProfsTer8
ENST00000467047.1:n.4283del
NM_002591.3:c.1641del NP_002582.3:p.Ala548ProfsTer8
XM_011528839.1:c.1245del XP_011527141.1:p.Ala416ProfsTer8
XM_024451888.1:c.1245del XP_024307656.1:p.Ala416ProfsTer8
NM_002591.4:c.1641del MANE Select NP_002582.3:p.Ala548ProfsTer8
Search 100 bp 5'
Search 100 bp 3'