Canonical Allele Identifier: CA2687148199

Gene: POMK

Linked Data

• gnomAD v4: 8-43122320-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122321_43122323dup , CM000670.2:g.43122321_43122323dup	GRCh38
NC_000008.10:g.42977464_42977466dup , CM000670.1:g.42977464_42977466dup	GRCh37
NC_000008.9:g.43096621_43096623dup	NCBI36
NG_033235.1:g.33816_33818dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.497_499dup MANE Select	ENSP00000331258.5:p.Leu166_Ser167insPhe
ENST00000614426.2:c.*293_*295dup	ENSP00000478821.2:n.*293_*295dup
ENST00000674646.1:c.215_217dup	ENSP00000501703.1:p.Leu72_Ser73insPhe
ENST00000674676.1:c.215_217dup	ENSP00000502544.1:p.Leu72_Ser73insPhe
ENST00000674782.1:c.*417_*419dup	ENSP00000501683.1:n.*417_*419dup
ENST00000674937.1:c.455_457dup	ENSP00000501823.1:p.Leu152_Ser153insPhe
ENST00000675322.1:c.215_217dup	ENSP00000502235.1:p.Leu72_Ser73insPhe
ENST00000675675.1:c.215_217dup	ENSP00000501793.1:p.Leu72_Ser73insPhe
ENST00000676178.1:c.*282_*284dup	ENSP00000502007.1:n.*282_*284dup
ENST00000676193.1:c.497_499dup	ENSP00000502774.1:p.Leu166_Ser167insPhe
ENST00000331373.9:c.497_499dup	ENSP00000331258.5:p.Leu166_Ser167insPhe
ENST00000614426.1:c.497_499dup	ENSP00000478821.1:p.Leu166_Ser167insPhe
NM_001277971.1:c.497_499dup	NP_001264900.1:p.Leu166_Ser167insPhe
NM_032237.4:c.497_499dup	NP_115613.1:p.Leu166_Ser167insPhe
XM_011544668.1:c.497_499dup	XP_011542970.1:p.Leu166_Ser167insPhe
XM_011544669.1:c.497_499dup	XP_011542971.1:p.Leu166_Ser167insPhe
NM_032237.5:c.497_499dup MANE Select	NP_115613.1:p.Leu166_Ser167insPhe
NM_001277971.2:c.497_499dup	NP_001264900.1:p.Leu166_Ser167insPhe