Canonical Allele Identifier: CA2660593145

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896828-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896832del , CM000664.2:g.108896832del	GRCh38
NC_000002.11:g.109513288del , CM000664.1:g.109513288del	GRCh37
NC_000002.10:g.108879720del	NCBI36
NG_008257.1:g.97544del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.*78del (EDAR) MANE Select	ENSP00000258443.2:n.*78del
ENST00000258443.6:c.*78del (EDAR)	ENSP00000258443.2:n.*78del
ENST00000376651.1:c.*78del (EDAR)	ENSP00000365839.1:n.*78del
ENST00000409271.5:c.*78del (EDAR)	ENSP00000386371.1:n.*78del
NM_022336.3:c.*78del (EDAR)	NP_071731.1:n.*78del
XM_006712204.1:c.*78del (EDAR)	XP_006712267.1:n.*78del
XM_011510502.1:c.*78del (EDAR)	XP_011508804.1:n.*78del
XM_011510503.1:c.*78del (EDAR)	XP_011508805.1:n.*78del
XM_011510504.1:c.*78del (EDAR)	XP_011508806.1:n.*78del
XM_011510502.2:c.*78del (EDAR)	XP_011508804.2:n.*78del
XM_011510503.2:c.*78del (EDAR)	XP_011508805.2:n.*78del
XM_017004623.2:c.8370+123786del (RANBP2)	XP_016860112.1:n.8370+123786del
NM_022336.4:c.*78del (EDAR) MANE Select	NP_071731.1:n.*78del