Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17811733_17811735dup , CM000679.2:g.17811733_17811735dup	GRCh38
NC_000017.10:g.17715047_17715049dup , CM000679.1:g.17715047_17715049dup	GRCh37
NC_000017.9:g.17655772_17655774dup	NCBI36
NG_007101.2:g.135261_135263dup
NG_029029.1:g.30277_30279dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261646.11:c.887_889dup MANE Select	ENSP00000261646.5:n.887_889dup
ENST00000261646.10:c.887_889dup	ENSP00000261646.5:n.887_889dup
ENST00000395757.6:c.20_22dup	ENSP00000379106.2:n.20_22dup
ENST00000485080.6:c.398-5_398-3dup	ENSP00000466643.1:n.398-5_398-3dup
ENST00000578469.1:c.209_211dup
NM_001005291.2:c.887_889dup	NP_001005291.1:n.887_889dup
NM_004176.4:c.887_889dup	NP_004167.3:n.887_889dup
XM_005256772.3:c.887_889dup	XP_005256829.1:n.887_889dup
XM_006721570.2:c.887_889dup	XP_006721633.1:n.887_889dup
XM_011523998.1:c.887_889dup	XP_011522300.1:n.887_889dup
XM_011523999.1:c.887_889dup	XP_011522301.1:n.887_889dup
XR_429821.2:n.4343_4345dup
XM_024450895.1:c.302_304dup	XP_024306663.1:n.302_304dup
XR_002958058.1:n.3635_3637dup
NM_001005291.3:c.887_889dup	NP_001005291.1:n.887_889dup
NM_001321096.3:c.887_889dup	NP_001308025.1:n.887_889dup
NM_001388385.1:c.887_889dup	NP_001375314.1:n.887_889dup
NM_001388386.1:c.712_714dup	NP_001375315.1:n.712_714dup
NM_001388387.1:c.887_889dup	NP_001375316.1:n.887_889dup
NM_001388388.1:c.712_714dup	NP_001375317.1:n.712_714dup
NM_001388389.1:c.887_889dup	NP_001375318.1:n.887_889dup
NM_001388390.1:c.887_889dup	NP_001375319.1:n.887_889dup
NM_001388391.1:c.887_889dup	NP_001375320.1:n.887_889dup
NM_001388392.1:c.887_889dup	NP_001375321.1:n.887_889dup
NM_001388393.1:c.887_889dup	NP_001375322.1:n.887_889dup
NM_001388394.1:c.887_889dup	NP_001375323.1:n.887_889dup
NM_004176.5:c.887_889dup MANE Select	NP_004167.3:n.887_889dup
NR_170943.1:n.4312_4314dup
NR_170944.1:n.3517_3519dup
NR_170945.1:n.3607_3609dup
NR_170990.1:n.3468-5_3468-3dup

HGVS	Amino-acid change
ENST00000261646.11:c.887_889dup MANE Select	ENSP00000261646.5:n.887_889dup
ENST00000261646.10:c.887_889dup	ENSP00000261646.5:n.887_889dup
ENST00000395757.6:c.20_22dup	ENSP00000379106.2:n.20_22dup
ENST00000485080.6:c.398-5_398-3dup	ENSP00000466643.1:n.398-5_398-3dup
ENST00000578469.1:c.209_211dup
NM_001005291.2:c.887_889dup	NP_001005291.1:n.887_889dup
NM_004176.4:c.887_889dup	NP_004167.3:n.887_889dup
XM_005256772.3:c.887_889dup	XP_005256829.1:n.887_889dup
XM_006721570.2:c.887_889dup	XP_006721633.1:n.887_889dup
XM_011523998.1:c.887_889dup	XP_011522300.1:n.887_889dup
XM_011523999.1:c.887_889dup	XP_011522301.1:n.887_889dup
XR_429821.2:n.4343_4345dup
XM_024450895.1:c.302_304dup	XP_024306663.1:n.302_304dup
XR_002958058.1:n.3635_3637dup
NM_001005291.3:c.887_889dup	NP_001005291.1:n.887_889dup
NM_001321096.3:c.887_889dup	NP_001308025.1:n.887_889dup
NM_001388385.1:c.887_889dup	NP_001375314.1:n.887_889dup
NM_001388386.1:c.712_714dup	NP_001375315.1:n.712_714dup
NM_001388387.1:c.887_889dup	NP_001375316.1:n.887_889dup
NM_001388388.1:c.712_714dup	NP_001375317.1:n.712_714dup
NM_001388389.1:c.887_889dup	NP_001375318.1:n.887_889dup
NM_001388390.1:c.887_889dup	NP_001375319.1:n.887_889dup
NM_001388391.1:c.887_889dup	NP_001375320.1:n.887_889dup
NM_001388392.1:c.887_889dup	NP_001375321.1:n.887_889dup
NM_001388393.1:c.887_889dup	NP_001375322.1:n.887_889dup
NM_001388394.1:c.887_889dup	NP_001375323.1:n.887_889dup
NM_004176.5:c.887_889dup MANE Select	NP_004167.3:n.887_889dup
NR_170943.1:n.4312_4314dup
NR_170944.1:n.3517_3519dup
NR_170945.1:n.3607_3609dup
NR_170990.1:n.3468-5_3468-3dup