Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145711_44145715del , CM000669.2:g.44145711_44145715del	GRCh38
NC_000007.13:g.44185310_44185314del , CM000669.1:g.44185310_44185314del	GRCh37
NC_000007.12:g.44151835_44151839del	NCBI36
NG_008847.1:g.48709_48713del
NG_008847.2:g.57456_57460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1033_1037del	ENSP00000379142.4:n.1033_1037del
ENST00000616242.5:c.155_159del	ENSP00000482149.2:n.155_159del
ENST00000683378.1:n.261_265del
ENST00000336642.9:c.69_73del	ENSP00000338009.5:p.Lys24AspfsTer?
ENST00000345378.7:c.1038_1042del	ENSP00000223366.2:p.Lys347AspfsTer?
ENST00000403799.8:c.1035_1039del MANE Select	ENSP00000384247.3:p.Lys346AspfsTer?
ENST00000671824.1:c.1098_1102del	ENSP00000500264.1:p.Lys367AspfsTer?
ENST00000672743.1:n.47_51del
ENST00000673284.1:c.1035_1039del	ENSP00000499852.1:p.Lys346AspfsTer?
ENST00000336642.8:c.87_91del	ENSP00000338009.4:p.Lys30AspfsTer?
ENST00000345378.6:c.1038_1042del	ENSP00000223366.2:p.Lys347AspfsTer?
ENST00000395796.7:c.1032_1036del	ENSP00000379142.3:p.Lys345AspfsTer?
ENST00000403799.7:c.1035_1039del	ENSP00000384247.3:p.Lys346AspfsTer?
ENST00000437084.1:c.984_988del	ENSP00000402840.1:p.Lys329AspfsTer?
ENST00000459642.1:n.415_419del
ENST00000473353.1:n.333_337del
ENST00000616242.4:c.1032_1036del	ENSP00000482149.1:p.Lys345AspfsTer?
NM_000162.3:c.1035_1039del	NP_000153.1:p.Lys346AspfsTer?
NM_033507.1:c.1038_1042del	NP_277042.1:p.Lys347AspfsTer?
NM_033508.1:c.1032_1036del	NP_277043.1:p.Lys345AspfsTer?
NM_000162.4:c.1035_1039del	NP_000153.1:p.Lys346AspfsTer?
NM_001354800.1:c.1035_1039del	NP_001341729.1:p.Lys346AspfsTer?
NM_001354801.1:c.24_28del	NP_001341730.1:p.Lys9AspfsTer?
NM_001354802.1:c.-106_-102del	NP_001341731.1:n.-106_-102del
NM_001354803.1:c.69_73del	NP_001341732.1:p.Lys24AspfsTer?
NM_033507.2:c.1038_1042del	NP_277042.1:p.Lys347AspfsTer?
NM_033508.2:c.1032_1036del	NP_277043.1:p.Lys345AspfsTer?
XM_024446707.1:c.-106_-102del	XP_024302475.1:n.-106_-102del
NM_000162.5:c.1035_1039del MANE Select	NP_000153.1:p.Lys346AspfsTer?
NM_033507.3:c.1038_1042del	NP_277042.1:p.Lys347AspfsTer?
NM_033508.3:c.1032_1036del	NP_277043.1:p.Lys345AspfsTer?
NM_001354803.2:c.69_73del	NP_001341732.1:p.Lys24AspfsTer?