Canonical Allele Identifier: CA2577178319
Gene: CERKL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181558657del , CM000664.2:g.181558657del GRCh38
NC_000002.11:g.182423384del , CM000664.1:g.182423384del GRCh37
NC_000002.10:g.182131629del NCBI36
NG_021178.1:g.103451del
NG_021178.2:g.103451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.-28del ENSP00000508396.1:n.-28del
ENST00000410087.8:c.729del MANE Select ENSP00000386725.3:p.Leu243PhefsTer3
ENST00000339098.9:c.807del ENSP00000341159.5:p.Leu269PhefsTer3
ENST00000374967.6:c.665del ENSP00000364106.2:n.665del
ENST00000374969.6:c.482-8949del ENSP00000364108.2:n.482-8949del
ENST00000374970.6:c.614-8949del ENSP00000364109.2:n.614-8949del
ENST00000409440.7:c.675del ENSP00000387080.3:p.Leu225PhefsTer3
ENST00000410087.7:c.729del ENSP00000386725.3:p.Leu243PhefsTer3
ENST00000421817.5:c.*11del ENSP00000411466.1:n.*11del
ENST00000452174.5:c.533del ENSP00000409198.1:n.533del
ENST00000466715.5:n.545del
ENST00000479558.5:n.727del
ENST00000494398.5:n.729del
NM_001030311.2:c.807del NP_001025482.1:p.Leu269PhefsTer3
NM_001030312.2:c.482-8949del NP_001025483.1:n.482-8949del
NM_001030313.2:c.614-8949del NP_001025484.1:n.614-8949del
NM_001160277.1:c.675del NP_001153749.1:p.Leu225PhefsTer3
NM_201548.4:c.729del NP_963842.1:p.Leu243PhefsTer3
NR_027689.1:n.634del
NR_027690.1:n.766del
NM_201548.5:c.729del MANE Select NP_963842.1:p.Leu243PhefsTer3
NM_001030311.3:c.807del NP_001025482.1:p.Leu269PhefsTer3
NM_001030312.3:c.482-8949del NP_001025483.1:n.482-8949del
NM_001030313.3:c.614-8949del NP_001025484.1:n.614-8949del
NM_001160277.2:c.675del NP_001153749.1:p.Leu225PhefsTer3
NR_027689.2:n.632del
NR_027690.2:n.764del