Canonical Allele Identifier: CA1278359136

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.108908282_108908296delinsGCGTGTGGGAGGCAT , CM000664.2:g.108908282_108908296delinsGCGTGTGGGAGGCAT GRCh38
NC_000002.11:g.109524738_109524752delinsGCGTGTGGGAGGCAT , CM000664.1:g.109524738_109524752delinsGCGTGTGGGAGGCAT GRCh37
NC_000002.10:g.108891170_108891184delinsGCGTGTGGGAGGCAT NCBI36
NG_008257.1:g.86077_86091delinsATGCCTCCCACACGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000258443.7:c.804-277_804-263delinsATGCCTCCCACACGC (EDAR) MANE Select ENSP00000258443.2:n.804-277_804-263delinsATGCCTCCCACACGC
ENST00000258443.6:c.804-277_804-263delinsATGCCTCCCACACGC (EDAR) ENSP00000258443.2:n.804-277_804-263delinsATGCCTCCCACACGC
ENST00000376651.1:c.900-277_900-263delinsATGCCTCCCACACGC (EDAR) ENSP00000365839.1:n.900-277_900-263delinsATGCCTCCCACACGC
ENST00000409271.5:c.900-277_900-263delinsATGCCTCCCACACGC (EDAR) ENSP00000386371.1:n.900-277_900-263delinsATGCCTCCCACACGC
NM_022336.3:c.804-277_804-263delinsATGCCTCCCACACGC (EDAR) NP_071731.1:n.804-277_804-263delinsATGCCTCCCACACGC
XM_006712204.1:c.900-277_900-263delinsATGCCTCCCACACGC (EDAR) XP_006712267.1:n.900-277_900-263delinsATGCCTCCCACACGC
XM_011510502.1:c.951-277_951-263delinsATGCCTCCCACACGC (EDAR) XP_011508804.1:n.951-277_951-263delinsATGCCTCCCACACGC
XM_011510503.1:c.855-277_855-263delinsATGCCTCCCACACGC (EDAR) XP_011508805.1:n.855-277_855-263delinsATGCCTCCCACACGC
XM_011510504.1:c.231-277_231-263delinsATGCCTCCCACACGC (EDAR) XP_011508806.1:n.231-277_231-263delinsATGCCTCCCACACGC
XM_011510502.2:c.1044-277_1044-263delinsATGCCTCCCACACGC (EDAR) XP_011508804.2:n.1044-277_1044-263delinsATGCCTCCCACACGC
XM_011510503.2:c.948-277_948-263delinsATGCCTCCCACACGC (EDAR) XP_011508805.2:n.948-277_948-263delinsATGCCTCCCACACGC
XM_017004623.2:c.8370+135236_8370+135250delinsGCGTGTGGGAGGCAT (RANBP2) XP_016860112.1:n.8370+135236_8370+135250delinsGCGTGTGGGAGGCAT...
NM_022336.4:c.804-277_804-263delinsATGCCTCCCACACGC (EDAR) MANE Select NP_071731.1:n.804-277_804-263delinsATGCCTCCCACACGC