Canonical Allele Identifier: CA2653461895

Gene: PCK1

Linked Data

• gnomAD v4: 20-57565443-ACCCAGCAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565446_57565453del , CM000682.2:g.57565446_57565453del	GRCh38
NC_000020.10:g.56140502_56140509del , CM000682.1:g.56140502_56140509del	GRCh37
NC_000020.9:g.55573908_55573915del	NCBI36
NG_008205.1:g.9366_9373del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1511_1518del MANE Select	ENSP00000319814.4:p.Pro504GlnfsTer?
ENST00000319441.5:c.1511_1518del	ENSP00000319814.4:p.Pro504GlnfsTer?
ENST00000467047.1:n.4153_4160del
NM_002591.3:c.1511_1518del	NP_002582.3:p.Pro504GlnfsTer?
XM_011528839.1:c.1115_1122del	XP_011527141.1:p.Pro372GlnfsTer?
XM_024451888.1:c.1115_1122del	XP_024307656.1:p.Pro372GlnfsTer?
NM_002591.4:c.1511_1518del MANE Select	NP_002582.3:p.Pro504GlnfsTer?