Canonical Allele Identifier: CA4736296
Gene: POMK HGNC NCBI

Linked Data

dbSNP Id: rs769848319

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.43122336del , CM000670.2:g.43122336del GRCh38
NC_000008.10:g.42977479del , CM000670.1:g.42977479del GRCh37
NC_000008.9:g.43096636del NCBI36
NG_033235.1:g.33831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000331373.10:c.512del MANE Select ENSP00000331258.5:p.Asn171MetfsTer2
ENST00000614426.2:c.*308del ENSP00000478821.2:n.*308del
ENST00000674646.1:c.230del ENSP00000501703.1:p.Asn77MetfsTer2
ENST00000674676.1:c.230del ENSP00000502544.1:p.Asn77MetfsTer2
ENST00000674782.1:c.*432del ENSP00000501683.1:n.*432del
ENST00000674937.1:c.470del ENSP00000501823.1:p.Asn157MetfsTer2
ENST00000675322.1:c.230del ENSP00000502235.1:p.Asn77MetfsTer2
ENST00000675675.1:c.230del ENSP00000501793.1:p.Asn77MetfsTer2
ENST00000676178.1:c.*297del ENSP00000502007.1:n.*297del
ENST00000676193.1:c.512del ENSP00000502774.1:p.Asn171MetfsTer2
ENST00000331373.9:c.512del ENSP00000331258.5:p.Asn171MetfsTer2
ENST00000614426.1:c.512del ENSP00000478821.1:p.Asn171MetfsTer2
NM_001277971.1:c.512del NP_001264900.1:p.Asn171MetfsTer2
NM_032237.4:c.512del NP_115613.1:p.Asn171MetfsTer2
XM_011544668.1:c.512del XP_011542970.1:p.Asn171MetfsTer2
XM_011544669.1:c.512del XP_011542971.1:p.Asn171MetfsTer2
NM_032237.5:c.512del MANE Select NP_115613.1:p.Asn171MetfsTer2
NM_001277971.2:c.512del NP_001264900.1:p.Asn171MetfsTer2