Canonical Allele Identifier: CA851958268

Gene: POMK

Linked Data

• dbSNP Id: rs1477956465
• MyVariant Identifiers: chr8:g.42978040_42978041insGGTG (hg19) ; chr8:g.43122897_43122898insGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122900_43122903dup , CM000670.2:g.43122900_43122903dup	GRCh38
NC_000008.10:g.42978043_42978046dup , CM000670.1:g.42978043_42978046dup	GRCh37
NC_000008.9:g.43097200_43097203dup	NCBI36
NG_033235.1:g.34395_34398dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.*23_*26dup MANE Select	ENSP00000331258.5:n.*23_*26dup
ENST00000614426.2:c.*872_*875dup	ENSP00000478821.2:n.*872_*875dup
ENST00000674646.1:c.794_797dup	ENSP00000501703.1:n.794_797dup
ENST00000674676.1:c.792+2_792+5dup
ENST00000674782.1:c.*996_*999dup	ENSP00000501683.1:n.*996_*999dup
ENST00000674937.1:c.*23_*26dup	ENSP00000501823.1:n.*23_*26dup
ENST00000675322.1:c.794_797dup	ENSP00000502235.1:n.794_797dup
ENST00000675675.1:c.792+2_792+5dup
ENST00000676178.1:c.*861_*864dup	ENSP00000502007.1:n.*861_*864dup
ENST00000676193.1:c.*23_*26dup	ENSP00000502774.1:n.*23_*26dup
ENST00000331373.9:c.*23_*26dup	ENSP00000331258.5:n.*23_*26dup
ENST00000614426.1:c.*23_*26dup	ENSP00000478821.1:n.*23_*26dup
NM_001277971.1:c.*23_*26dup	NP_001264900.1:n.*23_*26dup
NM_032237.4:c.*23_*26dup	NP_115613.1:n.*23_*26dup
XM_011544668.1:c.*23_*26dup	XP_011542970.1:n.*23_*26dup
XM_011544669.1:c.*23_*26dup	XP_011542971.1:n.*23_*26dup
NM_032237.5:c.*23_*26dup MANE Select	NP_115613.1:n.*23_*26dup
NM_001277971.2:c.*23_*26dup	NP_001264900.1:n.*23_*26dup