Canonical Allele Identifier: CA1278359117

Gene: EDAR RANBP2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108908252_108908257delinsGCAGGC , CM000664.2:g.108908252_108908257delinsGCAGGC	GRCh38
NC_000002.11:g.109524708_109524713delinsGCAGGC , CM000664.1:g.109524708_109524713delinsGCAGGC	GRCh37
NC_000002.10:g.108891140_108891145delinsGCAGGC	NCBI36
NG_008257.1:g.86116_86121delinsGCCTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.804-238_804-233delinsGCCTGC (EDAR) MANE Select	ENSP00000258443.2:n.804-238_804-233delinsGCCTGC
ENST00000258443.6:c.804-238_804-233delinsGCCTGC (EDAR)	ENSP00000258443.2:n.804-238_804-233delinsGCCTGC
ENST00000376651.1:c.900-238_900-233delinsGCCTGC (EDAR)	ENSP00000365839.1:n.900-238_900-233delinsGCCTGC
ENST00000409271.5:c.900-238_900-233delinsGCCTGC (EDAR)	ENSP00000386371.1:n.900-238_900-233delinsGCCTGC
NM_022336.3:c.804-238_804-233delinsGCCTGC (EDAR)	NP_071731.1:n.804-238_804-233delinsGCCTGC
XM_006712204.1:c.900-238_900-233delinsGCCTGC (EDAR)	XP_006712267.1:n.900-238_900-233delinsGCCTGC
XM_011510502.1:c.951-238_951-233delinsGCCTGC (EDAR)	XP_011508804.1:n.951-238_951-233delinsGCCTGC
XM_011510503.1:c.855-238_855-233delinsGCCTGC (EDAR)	XP_011508805.1:n.855-238_855-233delinsGCCTGC
XM_011510504.1:c.231-238_231-233delinsGCCTGC (EDAR)	XP_011508806.1:n.231-238_231-233delinsGCCTGC
XM_011510502.2:c.1044-238_1044-233delinsGCCTGC (EDAR)	XP_011508804.2:n.1044-238_1044-233delinsGCCTGC
XM_011510503.2:c.948-238_948-233delinsGCCTGC (EDAR)	XP_011508805.2:n.948-238_948-233delinsGCCTGC
XM_017004623.2:c.8370+135206_8370+135211delinsGCAGGC (RANBP2)	XP_016860112.1:n.8370+135206_8370+135211delinsGCAGGC
NM_022336.4:c.804-238_804-233delinsGCCTGC (EDAR) MANE Select	NP_071731.1:n.804-238_804-233delinsGCCTGC