Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.57611740_57611741dup , CM000673.2:g.57611740_57611741dup	GRCh38
NC_000011.9:g.57379213_57379214dup , CM000673.1:g.57379213_57379214dup	GRCh37
NC_000011.8:g.57135789_57135790dup	NCBI36
NG_009625.1:g.19187_19188dup , LRG_105:g.19187_19188dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278407.9:c.1053_1054dup MANE Select	ENSP00000278407.4:p.Asn352ThrfsTer3
ENST00000528996.2:c.73_74dup	ENSP00000431226.2:p.Gln25HisfsTer?
ENST00000531605.2:c.829_830dup	ENSP00000503752.1:n.829_830dup
ENST00000619430.2:c.849_850dup	ENSP00000478572.2:p.Asn284ThrfsTer3
ENST00000676670.1:c.1053_1054dup	ENSP00000504807.1:p.Asn352ThrfsTer3
ENST00000676741.1:n.2135_2136dup
ENST00000677624.1:c.473_474dup	ENSP00000503979.1:n.473_474dup
ENST00000677625.1:c.1030-31_1030-30dup	ENSP00000502857.1:n.1030-31_1030-30dup
ENST00000677856.1:n.1306_1307dup
ENST00000677915.1:c.709_710dup	ENSP00000503118.1:p.Gln237HisfsTer?
ENST00000678533.1:c.607_608dup	ENSP00000503873.1:n.607_608dup
ENST00000678592.1:c.1142_1143dup	ENSP00000504424.1:p.Ile382GlnfsTer17
ENST00000278407.8:c.1053_1054dup	ENSP00000278407.4:p.Asn352ThrfsTer3
ENST00000340687.10:c.1030-88_1030-87dup	ENSP00000341861.6:n.1030-88_1030-87dup
ENST00000378323.8:c.1068_1069dup	ENSP00000367574.4:p.Asn357ThrfsTer3
ENST00000378324.6:c.897_898dup	ENSP00000367575.2:p.Asn300ThrfsTer3
ENST00000403558.1:c.1182_1183dup	ENSP00000384420.1:p.Asn395ThrfsTer3
ENST00000528996.1:c.254_255dup	ENSP00000431226.1:p.Ile86GlnfsTer17
ENST00000530113.1:n.510_511dup
ENST00000531133.5:c.554_555dup	ENSP00000435431.1:n.554_555dup
ENST00000531797.5:c.78_79dup	ENSP00000432554.1:n.78_79dup
ENST00000619430.1:c.349-165_349-164dup	ENSP00000478572.1:n.349-165_349-164dup
NM_000062.2:c.1053_1054dup , LRG_105t1:c.1053_1054dup	NP_000053.2:p.Asn352ThrfsTer3
NM_001032295.1:c.1053_1054dup	NP_001027466.1:p.Asn352ThrfsTer3
NM_000062.3:c.1053_1054dup MANE Select	NP_000053.2:p.Asn352ThrfsTer3
NM_001032295.2:c.1053_1054dup	NP_001027466.1:p.Asn352ThrfsTer3