Canonical Allele Identifier: CA2499225506
Community Standard Title: NM_006494.4(ERF):c.517_521dup (p.Ala175SerfsTer?)
Gene: ERF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.42249594_42249598dup , CM000681.2:g.42249594_42249598dup GRCh38
NC_000019.9:g.42753746_42753750dup , CM000681.1:g.42753746_42753750dup GRCh37
NC_000019.8:g.47445586_47445590dup NCBI36
NG_042802.1:g.10570_10574dup

Transcript Alleles

HGVS Amino-acid Change
NM_006494.4:c.517_521dup MANE Select NP_006485.2:p.Ala175SerfsTer?
ENST00000222329.9:c.517_521dup MANE Select ENSP00000222329.3:p.Ala175SerfsTer?
NM_001301035.1:c.292_296dup NP_001287964.1:p.Ala100SerfsTer?
NM_001301035.2:c.292_296dup NP_001287964.1:p.Ala100SerfsTer?
NM_001308402.1:c.292_296dup NP_001295331.1:p.Ala100SerfsTer?
NM_001308402.2:c.292_296dup NP_001295331.1:p.Ala100SerfsTer?
NM_001312656.1:c.292_296dup NP_001299585.1:p.Ala100SerfsTer?
NM_001312656.2:c.292_296dup NP_001299585.1:p.Ala100SerfsTer?
NM_006494.3:c.517_521dup NP_006485.2:p.Ala175SerfsTer?
ENST00000222329.8:c.517_521dup ENSP00000222329.3:p.Ala175SerfsTer?
ENST00000440177.6:c.292_296dup ENSP00000388173.2:p.Ala100SerfsTer?
ENST00000594664.1:c.22+5383_22+5387dup ENSP00000470087.1:n.22+5383_22+5387dup
ENST00000595448.1:n.490_494dup
XM_011526612.1:c.292_296dup XP_011524914.1:p.Ala100SerfsTer?
XM_011526613.1:c.292_296dup XP_011524915.1:p.Ala100SerfsTer?
XM_017026468.1:c.292_296dup XP_016881957.1:p.Ala100SerfsTer?
XM_017026469.1:c.292_296dup XP_016881958.1:p.Ala100SerfsTer?