Canonical Allele Identifier: CA1018823109

Gene: PCK1

Linked Data

• dbSNP Id: rs2070157691
• gnomAD v3: 20-57562654-CAAG-C
• gnomAD v4: 20-57562654-CAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562655_57562657del , CM000682.2:g.57562655_57562657del	GRCh38
NC_000020.10:g.56137711_56137713del , CM000682.1:g.56137711_56137713del	GRCh37
NC_000020.9:g.55571117_55571119del	NCBI36
NG_008205.1:g.6575_6577del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.407-41_407-39del MANE Select	ENSP00000319814.4:n.407-41_407-39del
ENST00000319441.5:c.407-41_407-39del	ENSP00000319814.4:n.407-41_407-39del
ENST00000467047.1:n.1576_1578del
ENST00000498194.1:n.308_310del
NM_002591.3:c.407-41_407-39del	NP_002582.3:n.407-41_407-39del
XM_011528839.1:c.11-41_11-39del	XP_011527141.1:n.11-41_11-39del
XM_024451888.1:c.11-41_11-39del	XP_024307656.1:n.11-41_11-39del
NM_002591.4:c.407-41_407-39del MANE Select	NP_002582.3:n.407-41_407-39del