Canonical Allele Identifier: CA920241496

Gene: PCK1

Linked Data

• dbSNP Id: rs1568908678
• gnomAD v4: 20-57562933-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562939del , CM000682.2:g.57562939del	GRCh38
NC_000020.10:g.56137995del , CM000682.1:g.56137995del	GRCh37
NC_000020.9:g.55571401del	NCBI36
NG_008205.1:g.6859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.610+40del MANE Select	ENSP00000319814.4:n.610+40del
ENST00000319441.5:c.610+40del	ENSP00000319814.4:n.610+40del
ENST00000467047.1:n.1860del
ENST00000470051.1:n.106del
ENST00000498194.1:n.552+40del
NM_002591.3:c.610+40del	NP_002582.3:n.610+40del
XM_011528839.1:c.214+40del	XP_011527141.1:n.214+40del
XM_024451888.1:c.214+40del	XP_024307656.1:n.214+40del
NM_002591.4:c.610+40del MANE Select	NP_002582.3:n.610+40del