Canonical Allele Identifier: CA2660592755

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896509-CCTTCTGTCTTCTACTGGAGTGCAAACTCCTTAAAGACAGGGACCAGATTCTTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896518_108896571del , CM000664.2:g.108896518_108896571del	GRCh38
NC_000002.11:g.109512974_109513027del , CM000664.1:g.109512974_109513027del	GRCh37
NC_000002.10:g.108879406_108879459del	NCBI36
NG_008257.1:g.97810_97863del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.*344_*397del (EDAR) MANE Select	ENSP00000258443.2:n.*344_*397del
ENST00000258443.6:c.*344_*397del (EDAR)	ENSP00000258443.2:n.*344_*397del
ENST00000376651.1:c.*344_*397del (EDAR)	ENSP00000365839.1:n.*344_*397del
ENST00000409271.5:c.*344_*397del (EDAR)	ENSP00000386371.1:n.*344_*397del
NM_022336.3:c.*344_*397del (EDAR)	NP_071731.1:n.*344_*397del
XM_006712204.1:c.*344_*397del (EDAR)	XP_006712267.1:n.*344_*397del
XM_011510502.1:c.*344_*397del (EDAR)	XP_011508804.1:n.*344_*397del
XM_011510503.1:c.*344_*397del (EDAR)	XP_011508805.1:n.*344_*397del
XM_011510504.1:c.*344_*397del (EDAR)	XP_011508806.1:n.*344_*397del
XM_011510502.2:c.*344_*397del (EDAR)	XP_011508804.2:n.*344_*397del
XM_011510503.2:c.*344_*397del (EDAR)	XP_011508805.2:n.*344_*397del
XM_017004623.2:c.8370+123472_8370+123525del (RANBP2)	XP_016860112.1:n.8370+123472_8370+123525del
NM_022336.4:c.*344_*397del (EDAR) MANE Select	NP_071731.1:n.*344_*397del