Canonical Allele Identifier: CA316279263
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs28359543
gnomAD v2: 20-56138032-AC-A
gnomAD v3: 20-57562976-AC-A
gnomAD v4: 20-57562976-AC-A
MyVariant Identifiers: chr20:g.56138033del (hg19) chr20:g.57562978del (hg38) chr20:g.57562977del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562981del , CM000682.2:g.57562981del GRCh38
NC_000020.10:g.56138037del , CM000682.1:g.56138037del GRCh37
NC_000020.9:g.55571443del NCBI36
NG_008205.1:g.6901del

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-47del MANE Select ENSP00000319814.4:n.611-47del
ENST00000319441.5:c.611-47del ENSP00000319814.4:n.611-47del
ENST00000467047.1:n.1902del
ENST00000470051.1:n.148del
ENST00000498194.1:n.553-47del
NM_002591.3:c.611-47del NP_002582.3:n.611-47del
XM_011528839.1:c.215-47del XP_011527141.1:n.215-47del
XM_024451888.1:c.215-47del XP_024307656.1:n.215-47del
NM_002591.4:c.611-47del MANE Select NP_002582.3:n.611-47del
Search 100 bp 5'
Search 100 bp 3'