Canonical Allele Identifier: CA745920921
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1260567170
MyVariant Identifiers: chr20:g.56137865_56137876del (hg19) chr20:g.57562809_57562820del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562813_57562824del , CM000682.2:g.57562813_57562824del GRCh38
NC_000020.10:g.56137869_56137880del , CM000682.1:g.56137869_56137880del GRCh37
NC_000020.9:g.55571275_55571286del NCBI36
NG_008205.1:g.6733_6744del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.524_535del MANE Select ENSP00000319814.4:p.Arg175_Thr178del
ENST00000319441.5:c.524_535del ENSP00000319814.4:p.Arg175_Thr178del
ENST00000467047.1:n.1734_1745del
ENST00000498194.1:n.466_477del
NM_002591.3:c.524_535del NP_002582.3:p.Arg175_Thr178del
XM_011528839.1:c.128_139del XP_011527141.1:p.Arg43_Thr46del
XM_024451888.1:c.128_139del XP_024307656.1:p.Arg43_Thr46del
NM_002591.4:c.524_535del MANE Select NP_002582.3:p.Arg175_Thr178del
Search 100 bp 5'
Search 100 bp 3'