Canonical Allele Identifier: CA1779747227

Gene: POMK

Linked Data

• dbSNP Id: rs1811935141

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122339_43122340del , CM000670.2:g.43122339_43122340del	GRCh38
NC_000008.10:g.42977482_42977483del , CM000670.1:g.42977482_42977483del	GRCh37
NC_000008.9:g.43096639_43096640del	NCBI36
NG_033235.1:g.33834_33835del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.515_516del MANE Select	ENSP00000331258.5:p.Val172GlufsTer18
ENST00000614426.2:c.*311_*312del	ENSP00000478821.2:n.*311_*312del
ENST00000674646.1:c.233_234del	ENSP00000501703.1:p.Val78GlufsTer18
ENST00000674676.1:c.233_234del	ENSP00000502544.1:p.Val78GlufsTer18
ENST00000674782.1:c.*435_*436del	ENSP00000501683.1:n.*435_*436del
ENST00000674937.1:c.473_474del	ENSP00000501823.1:p.Val158GlufsTer18
ENST00000675322.1:c.233_234del	ENSP00000502235.1:p.Val78GlufsTer18
ENST00000675675.1:c.233_234del	ENSP00000501793.1:p.Val78GlufsTer18
ENST00000676178.1:c.*300_*301del	ENSP00000502007.1:n.*300_*301del
ENST00000676193.1:c.515_516del	ENSP00000502774.1:p.Val172GlufsTer18
ENST00000331373.9:c.515_516del	ENSP00000331258.5:p.Val172GlufsTer18
ENST00000614426.1:c.515_516del	ENSP00000478821.1:p.Val172GlufsTer18
NM_001277971.1:c.515_516del	NP_001264900.1:p.Val172GlufsTer18
NM_032237.4:c.515_516del	NP_115613.1:p.Val172GlufsTer18
XM_011544668.1:c.515_516del	XP_011542970.1:p.Val172GlufsTer18
XM_011544669.1:c.515_516del	XP_011542971.1:p.Val172GlufsTer18
NM_032237.5:c.515_516del MANE Select	NP_115613.1:p.Val172GlufsTer18
NM_001277971.2:c.515_516del	NP_001264900.1:p.Val172GlufsTer18