Canonical Allele Identifier: CA2653461206

Gene: PCK1

Linked Data

• gnomAD v4: 20-57564803-CTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57564804_57564806del , CM000682.2:g.57564804_57564806del	GRCh38
NC_000020.10:g.56139860_56139862del , CM000682.1:g.56139860_56139862del	GRCh37
NC_000020.9:g.55573266_55573268del	NCBI36
NG_008205.1:g.8724_8726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.1318+191_1318+193del MANE Select	ENSP00000319814.4:n.1318+191_1318+193del
ENST00000319441.5:c.1318+191_1318+193del	ENSP00000319814.4:n.1318+191_1318+193del
ENST00000467047.1:n.3725_3727del
ENST00000485958.1:n.442+191_442+193del
NM_002591.3:c.1318+191_1318+193del	NP_002582.3:n.1318+191_1318+193del
XM_011528839.1:c.922+191_922+193del	XP_011527141.1:n.922+191_922+193del
XM_024451888.1:c.922+191_922+193del	XP_024307656.1:n.922+191_922+193del
NM_002591.4:c.1318+191_1318+193del MANE Select	NP_002582.3:n.1318+191_1318+193del