Canonical Allele Identifier: CA16620859
Gene: ERF HGNC NCBI

Linked Data

ClinVar Variation Id: 423954
ClinVar RCV Id: RCV000483897 RCV001371425
dbSNP Id: rs1064796715
MyVariant Identifiers: chr19:g.42753191_42753192del (hg19) chr19:g.42249039_42249040del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249041_42249042del , CM000681.2:g.42249041_42249042del GRCh38
NC_000019.9:g.42753193_42753194del , CM000681.1:g.42753193_42753194del GRCh37
NC_000019.8:g.47445033_47445034del NCBI36
NG_042802.1:g.11125_11126del

Transcript Alleles

HGVS Amino-acid change
ENST00000222329.9:c.1072_1073del MANE Select ENSP00000222329.3:p.Pro358ThrfsTer20
ENST00000222329.8:c.1072_1073del ENSP00000222329.3:p.Pro358ThrfsTer20
ENST00000440177.6:c.847_848del ENSP00000388173.2:p.Pro283ThrfsTer20
ENST00000594664.1:c.22+5938_22+5939del ENSP00000470087.1:n.22+5938_22+5939del
NM_001301035.1:c.847_848del NP_001287964.1:p.Pro283ThrfsTer20
NM_001308402.1:c.847_848del NP_001295331.1:p.Pro283ThrfsTer20
NM_001312656.1:c.847_848del NP_001299585.1:p.Pro283ThrfsTer20
NM_006494.3:c.1072_1073del NP_006485.2:p.Pro358ThrfsTer20
XM_011526612.1:c.847_848del XP_011524914.1:p.Pro283ThrfsTer20
XM_011526613.1:c.847_848del XP_011524915.1:p.Pro283ThrfsTer20
XM_017026468.1:c.847_848del XP_016881957.1:p.Pro283ThrfsTer20
XM_017026469.1:c.847_848del XP_016881958.1:p.Pro283ThrfsTer20
NM_006494.4:c.1072_1073del MANE Select NP_006485.2:p.Pro358ThrfsTer20
NM_001308402.2:c.847_848del NP_001295331.1:p.Pro283ThrfsTer20
NM_001312656.2:c.847_848del NP_001299585.1:p.Pro283ThrfsTer20
NM_001301035.2:c.847_848del NP_001287964.1:p.Pro283ThrfsTer20
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