Canonical Allele Identifier: CA2555312081

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562821-A-AAGCCCGTGTGGGACGTGCTGGGTGCTGACGG

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG , CM000682.2:g.57562821_57562822insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	GRCh38
NC_000020.10:g.56137877_56137878insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG , CM000682.1:g.56137877_56137878insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	GRCh37
NC_000020.9:g.55571283_55571284insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	NCBI36
NG_008205.1:g.6741_6742insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG MANE Select	ENSP00000319814.4:p.Thr178LysfsTer?
ENST00000319441.5:c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	ENSP00000319814.4:p.Thr178LysfsTer?
ENST00000467047.1:n.1742_1743insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG
ENST00000498194.1:n.474_475insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG
NM_002591.3:c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	NP_002582.3:p.Thr178LysfsTer?
XM_011528839.1:c.136_137insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	XP_011527141.1:p.Thr46LysfsTer?
XM_024451888.1:c.136_137insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG	XP_024307656.1:p.Thr46LysfsTer?
NM_002591.4:c.532_533insAGCCCGTGTGGGACGTGCTGGGTGCTGACGG MANE Select	NP_002582.3:p.Thr178LysfsTer?