Canonical Allele Identifier: CA2661125010
Gene: CFC1 HGNC NCBI

Linked Data

gnomAD v4: 2-130592852-CATCT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130592855_130592858del , CM000664.2:g.130592855_130592858del GRCh38
NC_000002.11:g.131350428_131350431del , CM000664.1:g.131350428_131350431del GRCh37
NC_000002.10:g.131066898_131066901del NCBI36
NG_008148.1:g.11654_11657del

Transcript Alleles

HGVS Amino-acid change
ENST00000259216.6:c.*21_*24del MANE Select ENSP00000259216.5:n.*21_*24del
ENST00000259216.4:c.*21_*24del ENSP00000259216.4:n.*21_*24del
ENST00000615342.4:c.*2_*5del ENSP00000480526.1:n.*2_*5del
ENST00000621673.4:c.*21_*24del ENSP00000480843.1:n.*21_*24del
NM_001270420.1:c.*2_*5del NP_001257349.1:n.*2_*5del
NM_001270421.1:c.*21_*24del NP_001257350.1:n.*21_*24del
NM_032545.3:c.*21_*24del NP_115934.1:n.*21_*24del
NM_032545.4:c.*21_*24del MANE Select NP_115934.1:n.*21_*24del
NM_001270420.2:c.*2_*5del NP_001257349.1:n.*2_*5del
NM_001270421.2:c.*21_*24del NP_001257350.1:n.*21_*24del
Search 100 bp 5'
Search 100 bp 3'