Canonical Allele Identifier: CA783936145

Gene: CRLF1

Linked Data

• dbSNP Id: rs1467789973
• gnomAD v3: 19-18599700-AG-A
• gnomAD v4: 19-18599700-AG-A
• MyVariant Identifiers: chr19:g.18710511del (hg19) ; chr19:g.18599701del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599701del , CM000681.2:g.18599701del	GRCh38
NC_000019.9:g.18710511del , CM000681.1:g.18710511del	GRCh37
NC_000019.8:g.18571511del	NCBI36
NG_013370.1:g.12150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.261del	ENSP00000506849.1:p.Ser88ProfsTer?
ENST00000392386.8:c.261del MANE Select	ENSP00000376188.2:p.Ser88ProfsTer?
ENST00000392386.7:c.261del	ENSP00000376188.2:p.Ser88ProfsTer?
ENST00000593286.1:n.513del
NM_004750.4:c.261del	NP_004741.1:p.Ser88ProfsTer?
XM_011528422.1:c.195del	XP_011526724.1:p.Ser66ProfsTer?
XM_011528423.1:c.261del	XP_011526725.1:p.Ser88ProfsTer?
XM_011528424.1:c.195del	XP_011526726.1:p.Ser66ProfsTer?
XM_011528422.2:c.195del	XP_011526724.1:p.Ser66ProfsTer?
XM_011528423.2:c.261del	XP_011526725.1:p.Ser88ProfsTer?
XM_011528424.3:c.195del	XP_011526726.1:p.Ser66ProfsTer?
NM_004750.5:c.261del MANE Select	NP_004741.1:p.Ser88ProfsTer?