Canonical Allele Identifier: CA658799234

Gene: ERF

Linked Data

• ClinVar Variation Id: 543070
• ClinVar RCV Id: RCV000653728 ; RCV001254074
• dbSNP Id: rs1555750816
• MyVariant Identifiers: chr19:g.42753697_42753698del (hg19) ; chr19:g.42249545_42249546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42249546_42249547del , CM000681.2:g.42249546_42249547del	GRCh38
NC_000019.9:g.42753698_42753699del , CM000681.1:g.42753698_42753699del	GRCh37
NC_000019.8:g.47445538_47445539del	NCBI36
NG_042802.1:g.10619_10620del

Transcript Alleles

HGVS	Amino-acid change
ENST00000222329.9:c.566_567del MANE Select	ENSP00000222329.3:p.Cys189Ter
ENST00000222329.8:c.566_567del	ENSP00000222329.3:p.Cys189Ter
ENST00000440177.6:c.341_342del	ENSP00000388173.2:p.Cys114Ter
ENST00000594664.1:c.22+5432_22+5433del	ENSP00000470087.1:n.22+5432_22+5433del
ENST00000595448.1:n.539_540del
NM_001301035.1:c.341_342del	NP_001287964.1:p.Cys114Ter
NM_001308402.1:c.341_342del	NP_001295331.1:p.Cys114Ter
NM_001312656.1:c.341_342del	NP_001299585.1:p.Cys114Ter
NM_006494.3:c.566_567del	NP_006485.2:p.Cys189Ter
XM_011526612.1:c.341_342del	XP_011524914.1:p.Cys114Ter
XM_011526613.1:c.341_342del	XP_011524915.1:p.Cys114Ter
XM_017026468.1:c.341_342del	XP_016881957.1:p.Cys114Ter
XM_017026469.1:c.341_342del	XP_016881958.1:p.Cys114Ter
NM_006494.4:c.566_567del MANE Select	NP_006485.2:p.Cys189Ter
NM_001308402.2:c.341_342del	NP_001295331.1:p.Cys114Ter
NM_001312656.2:c.341_342del	NP_001299585.1:p.Cys114Ter
NM_001301035.2:c.341_342del	NP_001287964.1:p.Cys114Ter