Canonical Allele Identifier: CA1034837595

Gene: EDAR RANBP2

Linked Data

• dbSNP Id: rs1696619520
• gnomAD v3: 2-108897329-A-AT
• gnomAD v4: 2-108897329-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108897329_108897330insT , CM000664.2:g.108897329_108897330insT	GRCh38
NC_000002.11:g.109513785_109513786insT , CM000664.1:g.109513785_109513786insT	GRCh37
NC_000002.10:g.108880217_108880218insT	NCBI36
NG_008257.1:g.97043_97044insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1025-101_1025-100insA (EDAR) MANE Select	ENSP00000258443.2:n.1025-101_1025-100insA
ENST00000258443.6:c.1025-101_1025-100insA (EDAR)	ENSP00000258443.2:n.1025-101_1025-100insA
ENST00000376651.1:c.1121-101_1121-100insA (EDAR)	ENSP00000365839.1:n.1121-101_1121-100insA
ENST00000409271.5:c.1121-101_1121-100insA (EDAR)	ENSP00000386371.1:n.1121-101_1121-100insA
NM_022336.3:c.1025-101_1025-100insA (EDAR)	NP_071731.1:n.1025-101_1025-100insA
XM_006712204.1:c.1121-101_1121-100insA (EDAR)	XP_006712267.1:n.1121-101_1121-100insA
XM_011510502.1:c.1172-101_1172-100insA (EDAR)	XP_011508804.1:n.1172-101_1172-100insA
XM_011510503.1:c.1076-101_1076-100insA (EDAR)	XP_011508805.1:n.1076-101_1076-100insA
XM_011510504.1:c.452-101_452-100insA (EDAR)	XP_011508806.1:n.452-101_452-100insA
XM_011510502.2:c.1265-101_1265-100insA (EDAR)	XP_011508804.2:n.1265-101_1265-100insA
XM_011510503.2:c.1169-101_1169-100insA (EDAR)	XP_011508805.2:n.1169-101_1169-100insA
XM_017004623.2:c.8370+124283_8370+124284insT (RANBP2)	XP_016860112.1:n.8370+124283_8370+124284insT
NM_022336.4:c.1025-101_1025-100insA (EDAR) MANE Select	NP_071731.1:n.1025-101_1025-100insA