Canonical Allele Identifier: CA340449
Gene: CRLF1 HGNC NCBI

Linked Data

dbSNP Id: rs137853928
gnomAD v3: 19-18596900-CCA-C
gnomAD v4: 19-18596900-CCA-C
MyVariant Identifiers: chr19:g.18707711_18707712del (hg19) chr19:g.18596901_18596902del (hg38)
PubMed: PMID:12509788 PMID:21370513
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18596904_18596905del , CM000681.2:g.18596904_18596905del GRCh38
NC_000019.9:g.18707714_18707715del , CM000681.1:g.18707714_18707715del GRCh37
NC_000019.8:g.18568714_18568715del NCBI36
NG_013370.1:g.14949_14950del

Transcript Alleles

HGVS Amino-acid change
ENST00000684169.1:c.845_846del ENSP00000506849.1:p.Val282GlyfsTer?
ENST00000392386.8:c.845_846del MANE Select ENSP00000376188.2:p.Val282GlyfsTer?
ENST00000392386.7:c.845_846del ENSP00000376188.2:p.Val282GlyfsTer?
ENST00000597131.1:c.310_311del
NM_004750.4:c.845_846del NP_004741.1:p.Val282GlyfsTer?
XM_011528422.1:c.779_780del XP_011526724.1:p.Val260GlyfsTer?
XM_011528423.1:c.845_846del XP_011526725.1:p.Val282GlyfsTer?
XM_011528424.1:c.779_780del XP_011526726.1:p.Val260GlyfsTer?
XM_011528422.2:c.779_780del XP_011526724.1:p.Val260GlyfsTer?
XM_011528423.2:c.845_846del XP_011526725.1:p.Val282GlyfsTer?
XM_011528424.3:c.779_780del XP_011526726.1:p.Val260GlyfsTer?
NM_004750.5:c.845_846del MANE Select NP_004741.1:p.Val282GlyfsTer?
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