Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145659_44145660insTCGTCGC , CM000669.2:g.44145659_44145660insTCGTCGC	GRCh38
NC_000007.13:g.44185258_44185259insTCGTCGC , CM000669.1:g.44185258_44185259insTCGTCGC	GRCh37
NC_000007.12:g.44151783_44151784insTCGTCGC	NCBI36
NG_008847.1:g.48769_48770insGAGCGAC
NG_008847.2:g.57516_57517insGAGCGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1093_1094insGAGCGAC	ENSP00000379142.4:n.1093_1094insGAGCGAC
ENST00000616242.5:c.215_216insGAGCGAC	ENSP00000482149.2:n.215_216insGAGCGAC
ENST00000683378.1:n.321_322insGAGCGAC
ENST00000336642.9:c.129_130insGAGCGAC	ENSP00000338009.5:p.Ile44GlufsTer?
ENST00000345378.7:c.1098_1099insGAGCGAC	ENSP00000223366.2:p.Ile367GlufsTer?
ENST00000403799.8:c.1095_1096insGAGCGAC MANE Select	ENSP00000384247.3:p.Ile366GlufsTer?
ENST00000671824.1:c.1158_1159insGAGCGAC	ENSP00000500264.1:p.Ile387GlufsTer?
ENST00000672743.1:n.107_108insGAGCGAC
ENST00000673284.1:c.1095_1096insGAGCGAC	ENSP00000499852.1:p.Ile366GlufsTer?
ENST00000336642.8:c.147_148insGAGCGAC	ENSP00000338009.4:p.Ile50GlufsTer?
ENST00000345378.6:c.1098_1099insGAGCGAC	ENSP00000223366.2:p.Ile367GlufsTer?
ENST00000395796.7:c.1092_1093insGAGCGAC	ENSP00000379142.3:p.Ile365GlufsTer?
ENST00000403799.7:c.1095_1096insGAGCGAC	ENSP00000384247.3:p.Ile366GlufsTer?
ENST00000437084.1:c.1044_1045insGAGCGAC	ENSP00000402840.1:p.Ile349GlufsTer?
ENST00000459642.1:n.475_476insGAGCGAC
ENST00000473353.1:n.393_394insGAGCGAC
ENST00000616242.4:c.1092_1093insGAGCGAC	ENSP00000482149.1:p.Ile365GlufsTer?
NM_000162.3:c.1095_1096insGAGCGAC	NP_000153.1:p.Ile366GlufsTer?
NM_033507.1:c.1098_1099insGAGCGAC	NP_277042.1:p.Ile367GlufsTer?
NM_033508.1:c.1092_1093insGAGCGAC	NP_277043.1:p.Ile365GlufsTer?
NM_000162.4:c.1095_1096insGAGCGAC	NP_000153.1:p.Ile366GlufsTer?
NM_001354800.1:c.1095_1096insGAGCGAC	NP_001341729.1:p.Ile366GlufsTer?
NM_001354801.1:c.84_85insGAGCGAC	NP_001341730.1:p.Ile29GlufsTer?
NM_001354802.1:c.-46_-45insGAGCGAC	NP_001341731.1:n.-46_-45insGAGCGAC
NM_001354803.1:c.129_130insGAGCGAC	NP_001341732.1:p.Ile44GlufsTer?
NM_033507.2:c.1098_1099insGAGCGAC	NP_277042.1:p.Ile367GlufsTer?
NM_033508.2:c.1092_1093insGAGCGAC	NP_277043.1:p.Ile365GlufsTer?
XM_024446707.1:c.-46_-45insGAGCGAC	XP_024302475.1:n.-46_-45insGAGCGAC
NM_000162.5:c.1095_1096insGAGCGAC MANE Select	NP_000153.1:p.Ile366GlufsTer?
NM_033507.3:c.1098_1099insGAGCGAC	NP_277042.1:p.Ile367GlufsTer?
NM_033508.3:c.1092_1093insGAGCGAC	NP_277043.1:p.Ile365GlufsTer?
NM_001354803.2:c.129_130insGAGCGAC	NP_001341732.1:p.Ile44GlufsTer?