Canonical Allele Identifier: CA2660611209

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108929072-GCCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929073_108929075del , CM000664.2:g.108929073_108929075del	GRCh38
NC_000002.11:g.109545529_109545531del , CM000664.1:g.109545529_109545531del	GRCh37
NC_000002.10:g.108911961_108911963del	NCBI36
NG_008257.1:g.65298_65300del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.356+123_356+125del (EDAR) MANE Select	ENSP00000258443.2:n.356+123_356+125del
ENST00000258443.6:c.356+123_356+125del (EDAR)	ENSP00000258443.2:n.356+123_356+125del
ENST00000376651.1:c.356+123_356+125del (EDAR)	ENSP00000365839.1:n.356+123_356+125del
ENST00000409271.5:c.356+123_356+125del (EDAR)	ENSP00000386371.1:n.356+123_356+125del
NM_022336.3:c.356+123_356+125del (EDAR)	NP_071731.1:n.356+123_356+125del
XM_006712204.1:c.356+123_356+125del (EDAR)	XP_006712267.1:n.356+123_356+125del
XM_011510502.1:c.407+123_407+125del (EDAR)	XP_011508804.1:n.407+123_407+125del
XM_011510503.1:c.407+123_407+125del (EDAR)	XP_011508805.1:n.407+123_407+125del
XM_011510502.2:c.500+123_500+125del (EDAR)	XP_011508804.2:n.500+123_500+125del
XM_011510503.2:c.500+123_500+125del (EDAR)	XP_011508805.2:n.500+123_500+125del
XM_017004623.2:c.8370+156027_8370+156029del (RANBP2)	XP_016860112.1:n.8370+156027_8370+156029del
NM_022336.4:c.356+123_356+125del (EDAR) MANE Select	NP_071731.1:n.356+123_356+125del