Canonical Allele Identifier: CA1034841714

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696849473
• gnomAD v3: 2-108908198-AC-A
• gnomAD v4: 2-108908198-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908199del , CM000664.2:g.108908199del	GRCh38
NC_000002.11:g.109524655del , CM000664.1:g.109524655del	GRCh37
NC_000002.10:g.108891087del	NCBI36
NG_008257.1:g.86174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-180del (EDAR) MANE Select	ENSP00000258443.2:n.804-180del
ENST00000258443.6:c.804-180del (EDAR)	ENSP00000258443.2:n.804-180del
ENST00000376651.1:c.900-180del (EDAR)	ENSP00000365839.1:n.900-180del
ENST00000409271.5:c.900-180del (EDAR)	ENSP00000386371.1:n.900-180del
NM_022336.3:c.804-180del (EDAR)	NP_071731.1:n.804-180del
XM_006712204.1:c.900-180del (EDAR)	XP_006712267.1:n.900-180del
XM_011510502.1:c.951-180del (EDAR)	XP_011508804.1:n.951-180del
XM_011510503.1:c.855-180del (EDAR)	XP_011508805.1:n.855-180del
XM_011510504.1:c.231-180del (EDAR)	XP_011508806.1:n.231-180del
XM_011510502.2:c.1044-180del (EDAR)	XP_011508804.2:n.1044-180del
XM_011510503.2:c.948-180del (EDAR)	XP_011508805.2:n.948-180del
XM_017004623.2:c.8370+135153del (RANBP2)	XP_016860112.1:n.8370+135153del
NM_022336.4:c.804-180del (EDAR) MANE Select	NP_071731.1:n.804-180del