Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145634_44145654del , CM000669.2:g.44145634_44145654del	GRCh38
NC_000007.13:g.44185233_44185253del , CM000669.1:g.44185233_44185253del	GRCh37
NC_000007.12:g.44151758_44151778del	NCBI36
NG_008847.1:g.48771_48791del
NG_008847.2:g.57518_57538del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1095_1115del	ENSP00000379142.4:n.1095_1115del
ENST00000616242.5:c.217_237del	ENSP00000482149.2:n.217_237del
ENST00000683378.1:n.323_343del
ENST00000336642.9:c.131_151del	ENSP00000338009.5:p.Ile44_Glu50del
ENST00000345378.7:c.1100_1120del	ENSP00000223366.2:p.Ile367_Glu373del
ENST00000403799.8:c.1097_1117del MANE Select	ENSP00000384247.3:p.Ile366_Glu372del
ENST00000671824.1:c.1160_1180del	ENSP00000500264.1:p.Ile387_Glu393del
ENST00000672743.1:n.109_129del
ENST00000673284.1:c.1097_1117del	ENSP00000499852.1:p.Ile366_Glu372del
ENST00000336642.8:c.149_169del	ENSP00000338009.4:p.Ile50_Glu56del
ENST00000345378.6:c.1100_1120del	ENSP00000223366.2:p.Ile367_Glu373del
ENST00000395796.7:c.1094_1114del	ENSP00000379142.3:p.Ile365_Glu371del
ENST00000403799.7:c.1097_1117del	ENSP00000384247.3:p.Ile366_Glu372del
ENST00000437084.1:c.1046_1066del	ENSP00000402840.1:p.Ile349_Glu355del
ENST00000459642.1:n.477_497del
ENST00000616242.4:c.1094_1114del	ENSP00000482149.1:p.Ile365_Glu371del
NM_000162.3:c.1097_1117del	NP_000153.1:p.Ile366_Glu372del
NM_033507.1:c.1100_1120del	NP_277042.1:p.Ile367_Glu373del
NM_033508.1:c.1094_1114del	NP_277043.1:p.Ile365_Glu371del
NM_000162.4:c.1097_1117del	NP_000153.1:p.Ile366_Glu372del
NM_001354800.1:c.1097_1117del	NP_001341729.1:p.Ile366_Glu372del
NM_001354801.1:c.86_106del	NP_001341730.1:p.Ile29_Glu35del
NM_001354802.1:c.-44_-24del	NP_001341731.1:n.-44_-24del
NM_001354803.1:c.131_151del	NP_001341732.1:p.Ile44_Glu50del
NM_033507.2:c.1100_1120del	NP_277042.1:p.Ile367_Glu373del
NM_033508.2:c.1094_1114del	NP_277043.1:p.Ile365_Glu371del
XM_024446707.1:c.-44_-24del	XP_024302475.1:n.-44_-24del
NM_000162.5:c.1097_1117del MANE Select	NP_000153.1:p.Ile366_Glu372del
NM_033507.3:c.1100_1120del	NP_277042.1:p.Ile367_Glu373del
NM_033508.3:c.1094_1114del	NP_277043.1:p.Ile365_Glu371del
NM_001354803.2:c.131_151del	NP_001341732.1:p.Ile44_Glu50del