Canonical Allele Identifier: CA4736172
Community Standard Title: NM_032237.5(POMK):c.43dup (p.Arg15ProfsTer?)
Gene: POMK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43103591dup , CM000670.2:g.43103591dup GRCh38
NC_000008.10:g.42958734dup , CM000670.1:g.42958734dup GRCh37
NC_000008.9:g.43077891dup NCBI36
NG_033235.1:g.15086dup

Transcript Alleles

HGVS Amino-acid Change
NM_032237.5:c.43dup MANE Select NP_115613.1:p.Arg15ProfsTer?
ENST00000331373.10:c.43dup MANE Select ENSP00000331258.5:p.Arg15ProfsTer?
NM_001277971.1:c.43dup NP_001264900.1:p.Arg15ProfsTer?
NM_001277971.2:c.43dup NP_001264900.1:p.Arg15ProfsTer?
NM_032237.4:c.43dup NP_115613.1:p.Arg15ProfsTer?
ENST00000331373.9:c.43dup ENSP00000331258.5:p.Arg15ProfsTer?
ENST00000518991.5:c.43dup ENSP00000429090.1:p.Arg15ProfsTer?
ENST00000518991.6:c.43dup ENSP00000429090.2:p.Arg15ProfsTer?
ENST00000614426.1:c.43dup ENSP00000478821.1:p.Arg15ProfsTer?
ENST00000614426.2:c.43dup ENSP00000478821.2:p.Arg15ProfsTer?
ENST00000674727.1:n.301dup
ENST00000674782.1:c.43dup ENSP00000501683.1:p.Arg15ProfsTer?
ENST00000674820.1:c.43dup ENSP00000502636.1:p.Arg15ProfsTer?
ENST00000674937.1:c.43dup ENSP00000501823.1:p.Arg15ProfsTer?
ENST00000675129.1:c.43dup ENSP00000501906.1:p.Arg15ProfsTer?
ENST00000676178.1:c.43dup ENSP00000502007.1:p.Arg15ProfsTer?
ENST00000676193.1:c.43dup ENSP00000502774.1:p.Arg15ProfsTer?
XM_011544668.1:c.43dup XP_011542970.1:p.Arg15ProfsTer?
XM_011544669.1:c.43dup XP_011542971.1:p.Arg15ProfsTer?