Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145611_44145620delinsTGCGCAGCGC , CM000669.2:g.44145611_44145620delinsTGCGCAGCGC	GRCh38
NC_000007.13:g.44185210_44185219delinsTGCGCAGCGC , CM000669.1:g.44185210_44185219delinsTGCGCAGCGC	GRCh37
NC_000007.12:g.44151735_44151744delinsTGCGCAGCGC	NCBI36
NG_008847.1:g.48804_48813delinsGCGCTGCGCA
NG_008847.2:g.57551_57560delinsGCGCTGCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1128_1137delinsGCGCTGCGCA	ENSP00000379142.4:n.1128_1137delinsGCGCTGCGCA
ENST00000616242.5:c.250_259delinsGCGCTGCGCA	ENSP00000482149.2:n.250_259delinsGCGCTGCGCA
ENST00000683378.1:n.356_365delinsGCGCTGCGCA
ENST00000336642.9:c.164_173delinsGCGCTGCGCA	ENSP00000338009.5:p.Arg55=
ENST00000345378.7:c.1133_1142delinsGCGCTGCGCA	ENSP00000223366.2:p.Arg378=
ENST00000403799.8:c.1130_1139delinsGCGCTGCGCA MANE Select	ENSP00000384247.3:p.Arg377=
ENST00000671824.1:c.1193_1202delinsGCGCTGCGCA	ENSP00000500264.1:p.Arg398=
ENST00000672743.1:n.142_151delinsGCGCTGCGCA
ENST00000673284.1:c.1130_1139delinsGCGCTGCGCA	ENSP00000499852.1:p.Arg377=
ENST00000336642.8:c.182_191delinsGCGCTGCGCA	ENSP00000338009.4:p.Arg61=
ENST00000345378.6:c.1133_1142delinsGCGCTGCGCA	ENSP00000223366.2:p.Arg378=
ENST00000395796.7:c.1127_1136delinsGCGCTGCGCA	ENSP00000379142.3:p.Arg376=
ENST00000403799.7:c.1130_1139delinsGCGCTGCGCA	ENSP00000384247.3:p.Arg377=
ENST00000437084.1:c.1079_1088delinsGCGCTGCGCA	ENSP00000402840.1:p.Arg360=
ENST00000459642.1:n.510_519delinsGCGCTGCGCA
ENST00000616242.4:c.1127_1136delinsGCGCTGCGCA	ENSP00000482149.1:p.Arg376=
NM_000162.3:c.1130_1139delinsGCGCTGCGCA	NP_000153.1:p.Arg377=
NM_033507.1:c.1133_1142delinsGCGCTGCGCA	NP_277042.1:p.Arg378=
NM_033508.1:c.1127_1136delinsGCGCTGCGCA	NP_277043.1:p.Arg376=
NM_000162.4:c.1130_1139delinsGCGCTGCGCA	NP_000153.1:p.Arg377=
NM_001354800.1:c.1130_1139delinsGCGCTGCGCA	NP_001341729.1:p.Arg377=
NM_001354801.1:c.119_128delinsGCGCTGCGCA	NP_001341730.1:p.Arg40=
NM_001354802.1:c.-11_-2delinsGCGCTGCGCA	NP_001341731.1:n.-11_-2delinsGCGCTGCGCA
NM_001354803.1:c.164_173delinsGCGCTGCGCA	NP_001341732.1:p.Arg55=
NM_033507.2:c.1133_1142delinsGCGCTGCGCA	NP_277042.1:p.Arg378=
NM_033508.2:c.1127_1136delinsGCGCTGCGCA	NP_277043.1:p.Arg376=
XM_024446707.1:c.-11_-2delinsGCGCTGCGCA	XP_024302475.1:n.-11_-2delinsGCGCTGCGCA
NM_000162.5:c.1130_1139delinsGCGCTGCGCA MANE Select	NP_000153.1:p.Arg377=
NM_033507.3:c.1133_1142delinsGCGCTGCGCA	NP_277042.1:p.Arg378=
NM_033508.3:c.1127_1136delinsGCGCTGCGCA	NP_277043.1:p.Arg376=
NM_001354803.2:c.164_173delinsGCGCTGCGCA	NP_001341732.1:p.Arg55=