Canonical Allele Identifier: CA10603099

Gene: POMK

Linked Data

• ClinVar Variation Id: 280444
• ClinVar RCV Id: RCV000292839
• dbSNP Id: rs886041651
• MyVariant Identifiers: chr8:g.42977884dupT (hg19) ; chr8:g.43122741dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122741dup , CM000670.2:g.43122741dup	GRCh38
NC_000008.10:g.42977884dup , CM000670.1:g.42977884dup	GRCh37
NC_000008.9:g.43097041dup	NCBI36
NG_033235.1:g.34236dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.917dup MANE Select	ENSP00000331258.5:p.Leu306PhefsTer3
ENST00000614426.2:c.*713dup	ENSP00000478821.2:n.*713dup
ENST00000674646.1:c.635dup	ENSP00000501703.1:p.Leu212PhefsTer3
ENST00000674676.1:c.635dup	ENSP00000502544.1:p.Leu212PhefsTer3
ENST00000674782.1:c.*837dup	ENSP00000501683.1:n.*837dup
ENST00000674937.1:c.875dup	ENSP00000501823.1:p.Leu292PhefsTer3
ENST00000675322.1:c.635dup	ENSP00000502235.1:p.Leu212PhefsTer3
ENST00000675675.1:c.635dup	ENSP00000501793.1:p.Leu212PhefsTer3
ENST00000676178.1:c.*702dup	ENSP00000502007.1:n.*702dup
ENST00000676193.1:c.917dup	ENSP00000502774.1:p.Leu306PhefsTer3
ENST00000331373.9:c.917dup	ENSP00000331258.5:p.Leu306PhefsTer3
ENST00000614426.1:c.917dup	ENSP00000478821.1:p.Leu306PhefsTer3
NM_001277971.1:c.917dup	NP_001264900.1:p.Leu306PhefsTer3
NM_032237.4:c.917dup	NP_115613.1:p.Leu306PhefsTer3
XM_011544668.1:c.917dup	XP_011542970.1:p.Leu306PhefsTer3
XM_011544669.1:c.917dup	XP_011542971.1:p.Leu306PhefsTer3
NM_032237.5:c.917dup MANE Select	NP_115613.1:p.Leu306PhefsTer3
NM_001277971.2:c.917dup	NP_001264900.1:p.Leu306PhefsTer3