Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145631_44145632dup , CM000669.2:g.44145631_44145632dup	GRCh38
NC_000007.13:g.44185230_44185231dup , CM000669.1:g.44185230_44185231dup	GRCh37
NC_000007.12:g.44151755_44151756dup	NCBI36
NG_008847.1:g.48793_48794dup
NG_008847.2:g.57540_57541dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1117_1118dup	ENSP00000379142.4:n.1117_1118dup
ENST00000616242.5:c.239_240dup	ENSP00000482149.2:n.239_240dup
ENST00000683378.1:n.345_346dup
ENST00000336642.9:c.153_154dup	ENSP00000338009.5:p.Val52AlafsTer29
ENST00000345378.7:c.1122_1123dup	ENSP00000223366.2:p.Val375AlafsTer29
ENST00000403799.8:c.1119_1120dup MANE Select	ENSP00000384247.3:p.Val374AlafsTer29
ENST00000671824.1:c.1182_1183dup	ENSP00000500264.1:p.Val395AlafsTer29
ENST00000672743.1:n.131_132dup
ENST00000673284.1:c.1119_1120dup	ENSP00000499852.1:p.Val374AlafsTer29
ENST00000336642.8:c.171_172dup	ENSP00000338009.4:p.Val58AlafsTer29
ENST00000345378.6:c.1122_1123dup	ENSP00000223366.2:p.Val375AlafsTer29
ENST00000395796.7:c.1116_1117dup	ENSP00000379142.3:p.Val373AlafsTer29
ENST00000403799.7:c.1119_1120dup	ENSP00000384247.3:p.Val374AlafsTer29
ENST00000437084.1:c.1068_1069dup	ENSP00000402840.1:p.Val357AlafsTer29
ENST00000459642.1:n.499_500dup
ENST00000616242.4:c.1116_1117dup	ENSP00000482149.1:p.Val373AlafsTer29
NM_000162.3:c.1119_1120dup	NP_000153.1:p.Val374AlafsTer29
NM_033507.1:c.1122_1123dup	NP_277042.1:p.Val375AlafsTer29
NM_033508.1:c.1116_1117dup	NP_277043.1:p.Val373AlafsTer29
NM_000162.4:c.1119_1120dup	NP_000153.1:p.Val374AlafsTer29
NM_001354800.1:c.1119_1120dup	NP_001341729.1:p.Val374AlafsTer29
NM_001354801.1:c.108_109dup	NP_001341730.1:p.Val37AlafsTer29
NM_001354802.1:c.-22_-21dup	NP_001341731.1:n.-22_-21dup
NM_001354803.1:c.153_154dup	NP_001341732.1:p.Val52AlafsTer29
NM_033507.2:c.1122_1123dup	NP_277042.1:p.Val375AlafsTer29
NM_033508.2:c.1116_1117dup	NP_277043.1:p.Val373AlafsTer29
XM_024446707.1:c.-22_-21dup	XP_024302475.1:n.-22_-21dup
NM_000162.5:c.1119_1120dup MANE Select	NP_000153.1:p.Val374AlafsTer29
NM_033507.3:c.1122_1123dup	NP_277042.1:p.Val375AlafsTer29
NM_033508.3:c.1116_1117dup	NP_277043.1:p.Val373AlafsTer29
NM_001354803.2:c.153_154dup	NP_001341732.1:p.Val52AlafsTer29