Canonical Allele Identifier: CA2653461894

Gene: PCK1

Linked Data

• gnomAD v4: 20-57565436-GCCCAGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57565444_57565450del , CM000682.2:g.57565444_57565450del	GRCh38
NC_000020.10:g.56140500_56140506del , CM000682.1:g.56140500_56140506del	GRCh37
NC_000020.9:g.55573906_55573912del	NCBI36
NG_008205.1:g.9364_9370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1509_1515del MANE Select	ENSP00000319814.4:p.His503GlnfsTer?
ENST00000319441.5:c.1509_1515del	ENSP00000319814.4:p.His503GlnfsTer?
ENST00000467047.1:n.4151_4157del
NM_002591.3:c.1509_1515del	NP_002582.3:p.His503GlnfsTer?
XM_011528839.1:c.1113_1119del	XP_011527141.1:p.His371GlnfsTer?
XM_024451888.1:c.1113_1119del	XP_024307656.1:p.His371GlnfsTer?
NM_002591.4:c.1509_1515del MANE Select	NP_002582.3:p.His503GlnfsTer?