Canonical Allele Identifier: CA632626407

Gene: CRLF1

Linked Data

• dbSNP Id: rs1375256118
• gnomAD v2: 19-18710506-CG-C
• gnomAD v3: 19-18599696-CG-C
• gnomAD v4: 19-18599696-CG-C
• MyVariant Identifiers: chr19:g.18710507del (hg19) ; chr19:g.18599697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18599699del , CM000681.2:g.18599699del	GRCh38
NC_000019.9:g.18710509del , CM000681.1:g.18710509del	GRCh37
NC_000019.8:g.18571509del	NCBI36
NG_013370.1:g.12154del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684169.1:c.265del	ENSP00000506849.1:p.Arg89ValfsTer?
ENST00000392386.8:c.265del MANE Select	ENSP00000376188.2:p.Arg89ValfsTer?
ENST00000392386.7:c.265del	ENSP00000376188.2:p.Arg89ValfsTer?
NM_004750.4:c.265del	NP_004741.1:p.Arg89ValfsTer?
XM_011528422.1:c.199del	XP_011526724.1:p.Arg67ValfsTer?
XM_011528423.1:c.265del	XP_011526725.1:p.Arg89ValfsTer?
XM_011528424.1:c.199del	XP_011526726.1:p.Arg67ValfsTer?
XM_011528422.2:c.199del	XP_011526724.1:p.Arg67ValfsTer?
XM_011528423.2:c.265del	XP_011526725.1:p.Arg89ValfsTer?
XM_011528424.3:c.199del	XP_011526726.1:p.Arg67ValfsTer?
NM_004750.5:c.265del MANE Select	NP_004741.1:p.Arg89ValfsTer?