Canonical Allele Identifier: CA2577433709

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562955-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562959del , CM000682.2:g.57562959del	GRCh38
NC_000020.10:g.56138015del , CM000682.1:g.56138015del	GRCh37
NC_000020.9:g.55571421del	NCBI36
NG_008205.1:g.6879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.610+60del MANE Select	ENSP00000319814.4:n.610+60del
ENST00000319441.5:c.610+60del	ENSP00000319814.4:n.610+60del
ENST00000467047.1:n.1880del
ENST00000470051.1:n.126del
ENST00000498194.1:n.552+60del
NM_002591.3:c.610+60del	NP_002582.3:n.610+60del
XM_011528839.1:c.214+60del	XP_011527141.1:n.214+60del
XM_024451888.1:c.214+60del	XP_024307656.1:n.214+60del
NM_002591.4:c.610+60del MANE Select	NP_002582.3:n.610+60del