Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49042632dup , CM000674.2:g.49042632dup	GRCh38
NC_000012.11:g.49436415dup , CM000674.1:g.49436415dup	GRCh37
NC_000012.10:g.47722682dup	NCBI36
NG_027827.1:g.17695dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650290.2:c.610dup
ENST00000683543.2:c.5798dup	ENSP00000506726.1:p.Asn1934GlnfsTer23
ENST00000685166.1:c.5807dup	ENSP00000509386.1:p.Asn1937GlnfsTer23
ENST00000688095.1:c.1747dup	ENSP00000510007.1:n.1747dup
ENST00000692637.1:c.5795dup	ENSP00000509666.1:p.Asn1933GlnfsTer23
ENST00000301067.12:c.5798dup MANE Select	ENSP00000301067.7:p.Asn1934GlnfsTer23
ENST00000301067.11:c.5798dup	ENSP00000301067.7:p.Asn1934GlnfsTer23
NM_003482.3:c.5798dup	NP_003473.3:p.Asn1934GlnfsTer23
XM_005269162.3:c.5798dup	XP_005269219.1:p.Asn1934GlnfsTer23
XM_006719614.2:c.5807dup	XP_006719677.1:p.Asn1937GlnfsTer23
XM_006719616.2:c.5795dup	XP_006719679.1:p.Asn1933GlnfsTer23
XM_011538770.1:c.5807dup	XP_011537072.1:p.Asn1937GlnfsTer23
XM_011538771.1:c.5804dup	XP_011537073.1:p.Asn1936GlnfsTer23
XM_011538772.1:c.5798dup	XP_011537074.1:p.Asn1934GlnfsTer23
XM_011538773.1:c.5795dup	XP_011537075.1:p.Asn1933GlnfsTer23
XM_011538774.1:c.5807dup	XP_011537076.1:p.Asn1937GlnfsTer23
XM_011538775.1:c.5807dup	XP_011537077.1:p.Asn1937GlnfsTer23
XM_011538776.1:c.5807dup	XP_011537078.1:p.Asn1937GlnfsTer23
XR_944740.1:n.8127dup
XM_005269162.4:c.5798dup	XP_005269219.1:p.Asn1934GlnfsTer23
XM_006719614.4:c.5807dup	XP_006719677.1:p.Asn1937GlnfsTer23
XM_006719616.3:c.5795dup	XP_006719679.1:p.Asn1933GlnfsTer23
XM_011538770.2:c.5807dup	XP_011537072.1:p.Asn1937GlnfsTer23
XM_011538771.2:c.5804dup	XP_011537073.1:p.Asn1936GlnfsTer23
XM_011538772.2:c.5798dup	XP_011537074.1:p.Asn1934GlnfsTer23
XM_011538773.2:c.5795dup	XP_011537075.1:p.Asn1933GlnfsTer23
XM_011538774.2:c.5807dup	XP_011537076.1:p.Asn1937GlnfsTer23
XM_011538776.2:c.5807dup	XP_011537078.1:p.Asn1937GlnfsTer23
XR_001748874.1:n.7116dup
NM_003482.4:c.5798dup MANE Select	NP_003473.3:p.Asn1934GlnfsTer23