Canonical Allele Identifier: CA1034841301

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696837231
• gnomAD v3: 2-108907666-ACT-A
• gnomAD v4: 2-108907666-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108907668_108907669del , CM000664.2:g.108907668_108907669del	GRCh38
NC_000002.11:g.109524124_109524125del , CM000664.1:g.109524124_109524125del	GRCh37
NC_000002.10:g.108890556_108890557del	NCBI36
NG_008257.1:g.86705_86706del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.963+192_963+193del (EDAR) MANE Select	ENSP00000258443.2:n.963+192_963+193del
ENST00000258443.6:c.963+192_963+193del (EDAR)	ENSP00000258443.2:n.963+192_963+193del
ENST00000376651.1:c.1059+192_1059+193del (EDAR)	ENSP00000365839.1:n.1059+192_1059+193del
ENST00000409271.5:c.1059+192_1059+193del (EDAR)	ENSP00000386371.1:n.1059+192_1059+193del
NM_022336.3:c.963+192_963+193del (EDAR)	NP_071731.1:n.963+192_963+193del
XM_006712204.1:c.1059+192_1059+193del (EDAR)	XP_006712267.1:n.1059+192_1059+193del
XM_011510502.1:c.1110+192_1110+193del (EDAR)	XP_011508804.1:n.1110+192_1110+193del
XM_011510503.1:c.1014+192_1014+193del (EDAR)	XP_011508805.1:n.1014+192_1014+193del
XM_011510504.1:c.390+192_390+193del (EDAR)	XP_011508806.1:n.390+192_390+193del
XM_011510502.2:c.1203+192_1203+193del (EDAR)	XP_011508804.2:n.1203+192_1203+193del
XM_011510503.2:c.1107+192_1107+193del (EDAR)	XP_011508805.2:n.1107+192_1107+193del
XM_017004623.2:c.8370+134622_8370+134623del (RANBP2)	XP_016860112.1:n.8370+134622_8370+134623del
NM_022336.4:c.963+192_963+193del (EDAR) MANE Select	NP_071731.1:n.963+192_963+193del