Canonical Allele Identifier: CA2653459350

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562674-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562676_57562677del , CM000682.2:g.57562676_57562677del	GRCh38
NC_000020.10:g.56137732_56137733del , CM000682.1:g.56137732_56137733del	GRCh37
NC_000020.9:g.55571138_55571139del	NCBI36
NG_008205.1:g.6596_6597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.407-20_407-19del MANE Select	ENSP00000319814.4:n.407-20_407-19del
ENST00000319441.5:c.407-20_407-19del	ENSP00000319814.4:n.407-20_407-19del
ENST00000467047.1:n.1597_1598del
ENST00000498194.1:n.329_330del
NM_002591.3:c.407-20_407-19del	NP_002582.3:n.407-20_407-19del
XM_011528839.1:c.11-20_11-19del	XP_011527141.1:n.11-20_11-19del
XM_024451888.1:c.11-20_11-19del	XP_024307656.1:n.11-20_11-19del
NM_002591.4:c.407-20_407-19del MANE Select	NP_002582.3:n.407-20_407-19del