Canonical Allele Identifier: CA2577065509

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108897308-A-AAAT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897311_108897313dup , CM000664.2:g.108897311_108897313dup	GRCh38
NC_000002.11:g.109513767_109513769dup , CM000664.1:g.109513767_109513769dup	GRCh37
NC_000002.10:g.108880199_108880201dup	NCBI36
NG_008257.1:g.97062_97064dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-82_1025-80dup (EDAR) MANE Select	ENSP00000258443.2:n.1025-82_1025-80dup
ENST00000258443.6:c.1025-82_1025-80dup (EDAR)	ENSP00000258443.2:n.1025-82_1025-80dup
ENST00000376651.1:c.1121-82_1121-80dup (EDAR)	ENSP00000365839.1:n.1121-82_1121-80dup
ENST00000409271.5:c.1121-82_1121-80dup (EDAR)	ENSP00000386371.1:n.1121-82_1121-80dup
NM_022336.3:c.1025-82_1025-80dup (EDAR)	NP_071731.1:n.1025-82_1025-80dup
XM_006712204.1:c.1121-82_1121-80dup (EDAR)	XP_006712267.1:n.1121-82_1121-80dup
XM_011510502.1:c.1172-82_1172-80dup (EDAR)	XP_011508804.1:n.1172-82_1172-80dup
XM_011510503.1:c.1076-82_1076-80dup (EDAR)	XP_011508805.1:n.1076-82_1076-80dup
XM_011510504.1:c.452-82_452-80dup (EDAR)	XP_011508806.1:n.452-82_452-80dup
XM_011510502.2:c.1265-82_1265-80dup (EDAR)	XP_011508804.2:n.1265-82_1265-80dup
XM_011510503.2:c.1169-82_1169-80dup (EDAR)	XP_011508805.2:n.1169-82_1169-80dup
XM_017004623.2:c.8370+124265_8370+124267dup (RANBP2)	XP_016860112.1:n.8370+124265_8370+124267dup
NM_022336.4:c.1025-82_1025-80dup (EDAR) MANE Select	NP_071731.1:n.1025-82_1025-80dup