Canonical Allele Identifier: CA176079948

Gene: POMK

Linked Data

• dbSNP Id: rs112246806
• MyVariant Identifiers: chr8:g.42977473del (hg19) ; chr8:g.43122330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122330del , CM000670.2:g.43122330del	GRCh38
NC_000008.10:g.42977473del , CM000670.1:g.42977473del	GRCh37
NC_000008.9:g.43096630del	NCBI36
NG_033235.1:g.33825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.506del MANE Select	ENSP00000331258.5:p.Tyr169SerfsTer4
ENST00000614426.2:c.*302del	ENSP00000478821.2:n.*302del
ENST00000674646.1:c.224del	ENSP00000501703.1:p.Tyr75SerfsTer4
ENST00000674676.1:c.224del	ENSP00000502544.1:p.Tyr75SerfsTer4
ENST00000674782.1:c.*426del	ENSP00000501683.1:n.*426del
ENST00000674937.1:c.464del	ENSP00000501823.1:p.Tyr155SerfsTer4
ENST00000675322.1:c.224del	ENSP00000502235.1:p.Tyr75SerfsTer4
ENST00000675675.1:c.224del	ENSP00000501793.1:p.Tyr75SerfsTer4
ENST00000676178.1:c.*291del	ENSP00000502007.1:n.*291del
ENST00000676193.1:c.506del	ENSP00000502774.1:p.Tyr169SerfsTer4
ENST00000331373.9:c.506del	ENSP00000331258.5:p.Tyr169SerfsTer4
ENST00000614426.1:c.506del	ENSP00000478821.1:p.Tyr169SerfsTer4
NM_001277971.1:c.506del	NP_001264900.1:p.Tyr169SerfsTer4
NM_032237.4:c.506del	NP_115613.1:p.Tyr169SerfsTer4
XM_011544668.1:c.506del	XP_011542970.1:p.Tyr169SerfsTer4
XM_011544669.1:c.506del	XP_011542971.1:p.Tyr169SerfsTer4
NM_032237.5:c.506del MANE Select	NP_115613.1:p.Tyr169SerfsTer4
NM_001277971.2:c.506del	NP_001264900.1:p.Tyr169SerfsTer4