Canonical Allele Identifier: CA16620858

Gene: ERF

Linked Data

• ClinVar Variation Id: 420168
• ClinVar RCV Id: RCV000485362 ; RCV001263207 ; RCV001374966 ; RCV001865446 ; RCV003317236 ; RCV003313081
• dbSNP Id: rs1064794325
• gnomAD v2: 19-42753061-CTT-C
• gnomAD v4: 19-42248909-CTT-C
• COSMIC: COSM5423530
• MyVariant Identifiers: chr19:g.42753062_42753063del (hg19) ; chr19:g.42248910_42248911del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.42248910_42248911del , CM000681.2:g.42248910_42248911del	GRCh38
NC_000019.9:g.42753062_42753063del , CM000681.1:g.42753062_42753063del	GRCh37
NC_000019.8:g.47444902_47444903del	NCBI36
NG_042802.1:g.11254_11255del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222329.9:c.1201_1202del MANE Select	ENSP00000222329.3:p.Lys401GlufsTer10
ENST00000222329.8:c.1201_1202del	ENSP00000222329.3:p.Lys401GlufsTer10
ENST00000440177.6:c.976_977del	ENSP00000388173.2:p.Lys326GlufsTer10
ENST00000594664.1:c.22+6067_22+6068del	ENSP00000470087.1:n.22+6067_22+6068del
NM_001301035.1:c.976_977del	NP_001287964.1:p.Lys326GlufsTer10
NM_001308402.1:c.976_977del	NP_001295331.1:p.Lys326GlufsTer10
NM_001312656.1:c.976_977del	NP_001299585.1:p.Lys326GlufsTer10
NM_006494.3:c.1201_1202del	NP_006485.2:p.Lys401GlufsTer10
XM_011526612.1:c.976_977del	XP_011524914.1:p.Lys326GlufsTer10
XM_011526613.1:c.976_977del	XP_011524915.1:p.Lys326GlufsTer10
XM_017026468.1:c.976_977del	XP_016881957.1:p.Lys326GlufsTer10
XM_017026469.1:c.976_977del	XP_016881958.1:p.Lys326GlufsTer10
NM_006494.4:c.1201_1202del MANE Select	NP_006485.2:p.Lys401GlufsTer10
NM_001308402.2:c.976_977del	NP_001295331.1:p.Lys326GlufsTer10
NM_001312656.2:c.976_977del	NP_001299585.1:p.Lys326GlufsTer10
NM_001301035.2:c.976_977del	NP_001287964.1:p.Lys326GlufsTer10