Canonical Allele Identifier: CA2660593673

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108897274-A-AATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897276_108897279dup , CM000664.2:g.108897276_108897279dup	GRCh38
NC_000002.11:g.109513732_109513735dup , CM000664.1:g.109513732_109513735dup	GRCh37
NC_000002.10:g.108880164_108880167dup	NCBI36
NG_008257.1:g.97095_97098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-49_1025-46dup (EDAR) MANE Select	ENSP00000258443.2:n.1025-49_1025-46dup
ENST00000258443.6:c.1025-49_1025-46dup (EDAR)	ENSP00000258443.2:n.1025-49_1025-46dup
ENST00000376651.1:c.1121-49_1121-46dup (EDAR)	ENSP00000365839.1:n.1121-49_1121-46dup
ENST00000409271.5:c.1121-49_1121-46dup (EDAR)	ENSP00000386371.1:n.1121-49_1121-46dup
NM_022336.3:c.1025-49_1025-46dup (EDAR)	NP_071731.1:n.1025-49_1025-46dup
XM_006712204.1:c.1121-49_1121-46dup (EDAR)	XP_006712267.1:n.1121-49_1121-46dup
XM_011510502.1:c.1172-49_1172-46dup (EDAR)	XP_011508804.1:n.1172-49_1172-46dup
XM_011510503.1:c.1076-49_1076-46dup (EDAR)	XP_011508805.1:n.1076-49_1076-46dup
XM_011510504.1:c.452-49_452-46dup (EDAR)	XP_011508806.1:n.452-49_452-46dup
XM_011510502.2:c.1265-49_1265-46dup (EDAR)	XP_011508804.2:n.1265-49_1265-46dup
XM_011510503.2:c.1169-49_1169-46dup (EDAR)	XP_011508805.2:n.1169-49_1169-46dup
XM_017004623.2:c.8370+124230_8370+124233dup (RANBP2)	XP_016860112.1:n.8370+124230_8370+124233dup
NM_022336.4:c.1025-49_1025-46dup (EDAR) MANE Select	NP_071731.1:n.1025-49_1025-46dup