Canonical Allele Identifier: CA636606518

Gene: PCK1

Linked Data

• dbSNP Id: rs1312384829
• gnomAD v2: 20-56138041-C-CT
• gnomAD v4: 20-57562985-C-CT
• MyVariant Identifiers: chr20:g.56138041_56138042insT (hg19) ; chr20:g.57562985_57562986insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57562985_57562986insT , CM000682.2:g.57562985_57562986insT	GRCh38
NC_000020.10:g.56138041_56138042insT , CM000682.1:g.56138041_56138042insT	GRCh37
NC_000020.9:g.55571447_55571448insT	NCBI36
NG_008205.1:g.6905_6906insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319441.6:c.611-43_611-42insT MANE Select	ENSP00000319814.4:n.611-43_611-42insT
ENST00000319441.5:c.611-43_611-42insT	ENSP00000319814.4:n.611-43_611-42insT
ENST00000467047.1:n.1906_1907insT
ENST00000470051.1:n.152_153insT
ENST00000498194.1:n.553-43_553-42insT
NM_002591.3:c.611-43_611-42insT	NP_002582.3:n.611-43_611-42insT
XM_011528839.1:c.215-43_215-42insT	XP_011527141.1:n.215-43_215-42insT
XM_024451888.1:c.215-43_215-42insT	XP_024307656.1:n.215-43_215-42insT
NM_002591.4:c.611-43_611-42insT MANE Select	NP_002582.3:n.611-43_611-42insT