Canonical Allele Identifier: CA2573143106

Gene: POMK

Linked Data

• dbSNP Id: rs2130627772

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122827_43122828insCCTACCAGAAG , CM000670.2:g.43122827_43122828insCCTACCAGAAG	GRCh38
NC_000008.10:g.42977970_42977971insCCTACCAGAAG , CM000670.1:g.42977970_42977971insCCTACCAGAAG	GRCh37
NC_000008.9:g.43097127_43097128insCCTACCAGAAG	NCBI36
NG_033235.1:g.34322_34323insCCTACCAGAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.1003_1004insCCTACCAGAAG MANE Select	ENSP00000331258.5:p.Leu335SerfsTer12
ENST00000614426.2:c.*799_*800insCCTACCAGAAG	ENSP00000478821.2:n.*799_*800insCCTACCAGAAG
ENST00000674646.1:c.721_722insCCTACCAGAAG	ENSP00000501703.1:p.Leu241SerfsTer12
ENST00000674676.1:c.721_722insCCTACCAGAAG	ENSP00000502544.1:p.Leu241SerfsTer12
ENST00000674782.1:c.*923_*924insCCTACCAGAAG	ENSP00000501683.1:n.*923_*924insCCTACCAGAAG
ENST00000674937.1:c.961_962insCCTACCAGAAG	ENSP00000501823.1:p.Leu321SerfsTer12
ENST00000675322.1:c.721_722insCCTACCAGAAG	ENSP00000502235.1:p.Leu241SerfsTer12
ENST00000675675.1:c.721_722insCCTACCAGAAG	ENSP00000501793.1:p.Leu241SerfsTer12
ENST00000676178.1:c.*788_*789insCCTACCAGAAG	ENSP00000502007.1:n.*788_*789insCCTACCAGAAG
ENST00000676193.1:c.1003_1004insCCTACCAGAAG	ENSP00000502774.1:p.Leu335SerfsTer12
ENST00000331373.9:c.1003_1004insCCTACCAGAAG	ENSP00000331258.5:p.Leu335SerfsTer12
ENST00000614426.1:c.1003_1004insCCTACCAGAAG	ENSP00000478821.1:p.Leu335SerfsTer12
NM_001277971.1:c.1003_1004insCCTACCAGAAG	NP_001264900.1:p.Leu335SerfsTer12
NM_032237.4:c.1003_1004insCCTACCAGAAG	NP_115613.1:p.Leu335SerfsTer12
XM_011544668.1:c.1003_1004insCCTACCAGAAG	XP_011542970.1:p.Leu335SerfsTer12
XM_011544669.1:c.1003_1004insCCTACCAGAAG	XP_011542971.1:p.Leu335SerfsTer12
NM_032237.5:c.1003_1004insCCTACCAGAAG MANE Select	NP_115613.1:p.Leu335SerfsTer12
NM_001277971.2:c.1003_1004insCCTACCAGAAG	NP_001264900.1:p.Leu335SerfsTer12