Canonical Allele Identifier: CA2580096745
Gene: CRLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5712
ClinVar RCV Id: RCV000006066
dbSNP Id: rs2145329741

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18597038_18597039delinsA , CM000681.2:g.18597038_18597039delinsA GRCh38
NC_000019.9:g.18707848_18707849delinsA , CM000681.1:g.18707848_18707849delinsA GRCh37
NC_000019.8:g.18568848_18568849delinsA NCBI36
NG_013370.1:g.14812_14813delinsT

Transcript Alleles

HGVS Amino-acid Change
ENST00000684169.1:c.708_709delinsT ENSP00000506849.1:p.Pro238ArgfsTer6
ENST00000392386.8:c.708_709delinsT MANE Select ENSP00000376188.2:p.Pro238ArgfsTer6
ENST00000392386.7:c.708_709delinsT ENSP00000376188.2:p.Pro238ArgfsTer6
ENST00000597131.1:c.173_174delinsT
NM_004750.4:c.708_709delinsT NP_004741.1:p.Pro238ArgfsTer6
XM_011528422.1:c.642_643delinsT XP_011526724.1:p.Pro216ArgfsTer6
XM_011528423.1:c.708_709delinsT XP_011526725.1:p.Pro238ArgfsTer6
XM_011528424.1:c.642_643delinsT XP_011526726.1:p.Pro216ArgfsTer6
XM_011528422.2:c.642_643delinsT XP_011526724.1:p.Pro216ArgfsTer6
XM_011528423.2:c.708_709delinsT XP_011526725.1:p.Pro238ArgfsTer6
XM_011528424.3:c.642_643delinsT XP_011526726.1:p.Pro216ArgfsTer6
NM_004750.5:c.708_709delinsT MANE Select NP_004741.1:p.Pro238ArgfsTer6