Canonical Allele Identifier: CA636606552

Gene: PCK1

Linked Data

• dbSNP Id: rs1316914040
• gnomAD v2: 20-56137959-AGT-A
• gnomAD v4: 20-57562903-AGT-A
• MyVariant Identifiers: chr20:g.56137960_56137961del (hg19) ; chr20:g.57562904_57562905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562906_57562907del , CM000682.2:g.57562906_57562907del	GRCh38
NC_000020.10:g.56137962_56137963del , CM000682.1:g.56137962_56137963del	GRCh37
NC_000020.9:g.55571368_55571369del	NCBI36
NG_008205.1:g.6826_6827del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.610+7_610+8del MANE Select	ENSP00000319814.4:n.610+7_610+8del
ENST00000319441.5:c.610+7_610+8del	ENSP00000319814.4:n.610+7_610+8del
ENST00000467047.1:n.1827_1828del
ENST00000470051.1:n.73_74del
ENST00000498194.1:n.552+7_552+8del
NM_002591.3:c.610+7_610+8del	NP_002582.3:n.610+7_610+8del
XM_011528839.1:c.214+7_214+8del	XP_011527141.1:n.214+7_214+8del
XM_024451888.1:c.214+7_214+8del	XP_024307656.1:n.214+7_214+8del
NM_002591.4:c.610+7_610+8del MANE Select	NP_002582.3:n.610+7_610+8del