Canonical Allele Identifier: CA2660611276

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108929280-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108929282_108929283del , CM000664.2:g.108929282_108929283del	GRCh38
NC_000002.11:g.109545738_109545739del , CM000664.1:g.109545738_109545739del	GRCh37
NC_000002.10:g.108912170_108912171del	NCBI36
NG_008257.1:g.65091_65092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258443.7:c.272_273del (EDAR) MANE Select	ENSP00000258443.2:p.Lys91ArgfsTer3
ENST00000258443.6:c.272_273del (EDAR)	ENSP00000258443.2:p.Lys91ArgfsTer3
ENST00000376651.1:c.272_273del (EDAR)	ENSP00000365839.1:p.Lys91ArgfsTer3
ENST00000409271.5:c.272_273del (EDAR)	ENSP00000386371.1:p.Lys91ArgfsTer3
NM_022336.3:c.272_273del (EDAR)	NP_071731.1:p.Lys91ArgfsTer3
XM_006712204.1:c.272_273del (EDAR)	XP_006712267.1:p.Lys91ArgfsTer3
XM_011510502.1:c.323_324del (EDAR)	XP_011508804.1:p.Lys108ArgfsTer3
XM_011510503.1:c.323_324del (EDAR)	XP_011508805.1:p.Lys108ArgfsTer3
XM_011510502.2:c.416_417del (EDAR)	XP_011508804.2:p.Lys139ArgfsTer3
XM_011510503.2:c.416_417del (EDAR)	XP_011508805.2:p.Lys139ArgfsTer3
XM_017004623.2:c.8370+156236_8370+156237del (RANBP2)	XP_016860112.1:n.8370+156236_8370+156237d...
NM_022336.4:c.272_273del (EDAR) MANE Select	NP_071731.1:p.Lys91ArgfsTer3