Canonical Allele Identifier: CA2580616644
Gene: CERKL HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181548717_181548718del , CM000664.2:g.181548717_181548718del GRCh38
NC_000002.11:g.182413444_182413445del , CM000664.1:g.182413444_182413445del GRCh37
NC_000002.10:g.182121689_182121690del NCBI36
NG_021178.1:g.113394_113395del
NG_021178.2:g.113394_113395del

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.283_284del ENSP00000508396.1:p.Asp95PhefsTer5
ENST00000410087.8:c.1039_1040del MANE Select ENSP00000386725.3:p.Asp347PhefsTer5
ENST00000339098.9:c.1117_1118del ENSP00000341159.5:p.Asp373PhefsTer5
ENST00000374967.6:c.975_976del ENSP00000364106.2:n.975_976del
ENST00000374969.6:c.700_701del ENSP00000364108.2:p.Asp234PhefsTer5
ENST00000374970.6:c.832_833del ENSP00000364109.2:p.Asp278PhefsTer5
ENST00000409440.7:c.985_986del ENSP00000387080.3:p.Asp329PhefsTer5
ENST00000410087.7:c.1039_1040del ENSP00000386725.3:p.Asp347PhefsTer5
ENST00000421817.5:c.*321_*322del ENSP00000411466.1:n.*321_*322del
ENST00000452174.5:c.843_844del ENSP00000409198.1:n.843_844del
ENST00000479558.5:n.1037_1038del
ENST00000494398.5:n.1039_1040del
NM_001030311.2:c.1117_1118del NP_001025482.1:p.Asp373PhefsTer5
NM_001030312.2:c.700_701del NP_001025483.1:p.Asp234PhefsTer5
NM_001030313.2:c.832_833del NP_001025484.1:p.Asp278PhefsTer5
NM_001160277.1:c.985_986del NP_001153749.1:p.Asp329PhefsTer5
NM_201548.4:c.1039_1040del NP_963842.1:p.Asp347PhefsTer5
NR_027689.1:n.944_945del
NR_027690.1:n.1076_1077del
NM_201548.5:c.1039_1040del MANE Select NP_963842.1:p.Asp347PhefsTer5
NM_001030311.3:c.1117_1118del NP_001025482.1:p.Asp373PhefsTer5
NM_001030312.3:c.700_701del NP_001025483.1:p.Asp234PhefsTer5
NM_001030313.3:c.832_833del NP_001025484.1:p.Asp278PhefsTer5
NM_001160277.2:c.985_986del NP_001153749.1:p.Asp329PhefsTer5
NR_027689.2:n.942_943del
NR_027690.2:n.1074_1075del