Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145656_44145659dup , CM000669.2:g.44145656_44145659dup	GRCh38
NC_000007.13:g.44185255_44185258dup , CM000669.1:g.44185255_44185258dup	GRCh37
NC_000007.12:g.44151780_44151783dup	NCBI36
NG_008847.1:g.48765_48768dup
NG_008847.2:g.57512_57515dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1089_1092dup	ENSP00000379142.4:n.1089_1092dup
ENST00000616242.5:c.211_214dup	ENSP00000482149.2:n.211_214dup
ENST00000683378.1:n.317_320dup
ENST00000336642.9:c.125_128dup	ENSP00000338009.5:p.Asp43GlufsTer?
ENST00000345378.7:c.1094_1097dup	ENSP00000223366.2:p.Asp366GlufsTer?
ENST00000403799.8:c.1091_1094dup MANE Select	ENSP00000384247.3:p.Asp365GlufsTer?
ENST00000671824.1:c.1154_1157dup	ENSP00000500264.1:p.Asp386GlufsTer?
ENST00000672743.1:n.103_106dup
ENST00000673284.1:c.1091_1094dup	ENSP00000499852.1:p.Asp365GlufsTer?
ENST00000336642.8:c.143_146dup	ENSP00000338009.4:p.Asp49GlufsTer?
ENST00000345378.6:c.1094_1097dup	ENSP00000223366.2:p.Asp366GlufsTer?
ENST00000395796.7:c.1088_1091dup	ENSP00000379142.3:p.Asp364GlufsTer?
ENST00000403799.7:c.1091_1094dup	ENSP00000384247.3:p.Asp365GlufsTer?
ENST00000437084.1:c.1040_1043dup	ENSP00000402840.1:p.Asp348GlufsTer?
ENST00000459642.1:n.471_474dup
ENST00000473353.1:n.389_392dup
ENST00000616242.4:c.1088_1091dup	ENSP00000482149.1:p.Asp364GlufsTer?
NM_000162.3:c.1091_1094dup	NP_000153.1:p.Asp365GlufsTer?
NM_033507.1:c.1094_1097dup	NP_277042.1:p.Asp366GlufsTer?
NM_033508.1:c.1088_1091dup	NP_277043.1:p.Asp364GlufsTer?
NM_000162.4:c.1091_1094dup	NP_000153.1:p.Asp365GlufsTer?
NM_001354800.1:c.1091_1094dup	NP_001341729.1:p.Asp365GlufsTer?
NM_001354801.1:c.80_83dup	NP_001341730.1:p.Asp28GlufsTer?
NM_001354802.1:c.-50_-47dup	NP_001341731.1:n.-50_-47dup
NM_001354803.1:c.125_128dup	NP_001341732.1:p.Asp43GlufsTer?
NM_033507.2:c.1094_1097dup	NP_277042.1:p.Asp366GlufsTer?
NM_033508.2:c.1088_1091dup	NP_277043.1:p.Asp364GlufsTer?
XM_024446707.1:c.-50_-47dup	XP_024302475.1:n.-50_-47dup
NM_000162.5:c.1091_1094dup MANE Select	NP_000153.1:p.Asp365GlufsTer?
NM_033507.3:c.1094_1097dup	NP_277042.1:p.Asp366GlufsTer?
NM_033508.3:c.1088_1091dup	NP_277043.1:p.Asp364GlufsTer?
NM_001354803.2:c.125_128dup	NP_001341732.1:p.Asp43GlufsTer?