Canonical Allele Identifier: CA636606519
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1235190335
gnomAD v2: 20-56138042-AGGGCCCTGGCG-A
gnomAD v4: 20-57562986-AGGGCCCTGGCG-A
MyVariant Identifiers: chr20:g.56138043_56138053del (hg19) chr20:g.57562987_57562997del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562987_57562997del , CM000682.2:g.57562987_57562997del GRCh38
NC_000020.10:g.56138043_56138053del , CM000682.1:g.56138043_56138053del GRCh37
NC_000020.9:g.55571449_55571459del NCBI36
NG_008205.1:g.6907_6917del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-41_611-31del MANE Select ENSP00000319814.4:n.611-41_611-31del
ENST00000319441.5:c.611-41_611-31del ENSP00000319814.4:n.611-41_611-31del
ENST00000467047.1:n.1908_1918del
ENST00000470051.1:n.154_164del
ENST00000498194.1:n.553-41_553-31del
NM_002591.3:c.611-41_611-31del NP_002582.3:n.611-41_611-31del
XM_011528839.1:c.215-41_215-31del XP_011527141.1:n.215-41_215-31del
XM_024451888.1:c.215-41_215-31del XP_024307656.1:n.215-41_215-31del
NM_002591.4:c.611-41_611-31del MANE Select NP_002582.3:n.611-41_611-31del
Search 100 bp 5'
Search 100 bp 3'