Canonical Allele Identifier: CA1470076

Gene: EDARADD

Linked Data

• dbSNP Id: rs758607876
• ExAC: 1:236645698 CACCCA / C
• gnomAD v2: 1-236645698-CACCCA-C
• gnomAD v3: 1-236482398-CACCCA-C
• gnomAD v4: 1-236482398-CACCCA-C
• MyVariant Identifiers: chr1:g.236645699_236645703del (hg19) ; chr1:g.236482399_236482403del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482401_236482405del , CM000663.2:g.236482401_236482405del	GRCh38
NC_000001.10:g.236645701_236645705del , CM000663.1:g.236645701_236645705del	GRCh37
NC_000001.9:g.234712324_234712328del	NCBI36
NG_011566.1:g.93022_93026del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.400_404del MANE Select	ENSP00000335076.4:p.Pro134GlyfsTer16
ENST00000359362.6:c.370_374del	ENSP00000352320.4:p.Pro124GlyfsTer16
ENST00000637660.1:c.334_338del	ENSP00000490347.1:p.Pro112GlyfsTer16
ENST00000642595.1:c.236-9336_236-9332del	ENSP00000494458.1:n.236-9336_236-9332del
ENST00000334232.8:c.400_404del	ENSP00000335076.4:p.Pro134GlyfsTer16
ENST00000359362.5:c.370_374del	ENSP00000352320.4:p.Pro124GlyfsTer16
NM_080738.3:c.370_374del	NP_542776.1:p.Pro124GlyfsTer16
NM_145861.2:c.400_404del	NP_665860.2:p.Pro134GlyfsTer16
NM_080738.4:c.370_374del	NP_542776.1:p.Pro124GlyfsTer16
NM_145861.4:c.400_404del MANE Select	NP_665860.2:p.Pro134GlyfsTer16