Canonical Allele Identifier: CA2536468544

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562738-G-GCAGCAAGAT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562739_57562740insAGCAAGATC , CM000682.2:g.57562739_57562740insAGCAAGATC	GRCh38
NC_000020.10:g.56137795_56137796insAGCAAGATC , CM000682.1:g.56137795_56137796insAGCAAGATC	GRCh37
NC_000020.9:g.55571201_55571202insAGCAAGATC	NCBI36
NG_008205.1:g.6659_6660insAGCAAGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.450_451insAGCAAGATC MANE Select	ENSP00000319814.4:p.Gly150_Ser151insSerLysIle
ENST00000319441.5:c.450_451insAGCAAGATC	ENSP00000319814.4:p.Gly150_Ser151insSerLysIle
ENST00000467047.1:n.1660_1661insAGCAAGATC
ENST00000498194.1:n.392_393insAGCAAGATC
NM_002591.3:c.450_451insAGCAAGATC	NP_002582.3:p.Gly150_Ser151insSerLysIle
XM_011528839.1:c.54_55insAGCAAGATC	XP_011527141.1:p.Gly18_Ser19insSerLysIle
XM_024451888.1:c.54_55insAGCAAGATC	XP_024307656.1:p.Gly18_Ser19insSerLysIle
NM_002591.4:c.450_451insAGCAAGATC MANE Select	NP_002582.3:p.Gly150_Ser151insSerLysIle