Canonical Allele Identifier: CA2653460115

Gene: PCK1

Linked Data

• gnomAD v4: 20-57562966-TGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562967_57562969del , CM000682.2:g.57562967_57562969del	GRCh38
NC_000020.10:g.56138023_56138025del , CM000682.1:g.56138023_56138025del	GRCh37
NC_000020.9:g.55571429_55571431del	NCBI36
NG_008205.1:g.6887_6889del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.611-61_611-59del MANE Select	ENSP00000319814.4:n.611-61_611-59del
ENST00000319441.5:c.611-61_611-59del	ENSP00000319814.4:n.611-61_611-59del
ENST00000467047.1:n.1888_1890del
ENST00000470051.1:n.134_136del
ENST00000498194.1:n.553-61_553-59del
NM_002591.3:c.611-61_611-59del	NP_002582.3:n.611-61_611-59del
XM_011528839.1:c.215-61_215-59del	XP_011527141.1:n.215-61_215-59del
XM_024451888.1:c.215-61_215-59del	XP_024307656.1:n.215-61_215-59del
NM_002591.4:c.611-61_611-59del MANE Select	NP_002582.3:n.611-61_611-59del