Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44145601_44145618del , CM000669.2:g.44145601_44145618del	GRCh38
NC_000007.13:g.44185200_44185217del , CM000669.1:g.44185200_44185217del	GRCh37
NC_000007.12:g.44151725_44151742del	NCBI36
NG_008847.1:g.48808_48825del
NG_008847.2:g.57555_57572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395796.8:c.1132_1149del	ENSP00000379142.4:n.1132_1149del
ENST00000616242.5:c.254_271del	ENSP00000482149.2:n.254_271del
ENST00000683378.1:n.360_377del
ENST00000336642.9:c.168_185del	ENSP00000338009.5:p.Ala57_Ala62del
ENST00000345378.7:c.1137_1154del	ENSP00000223366.2:p.Ala380_Ala385del
ENST00000403799.8:c.1134_1151del MANE Select	ENSP00000384247.3:p.Ala379_Ala384del
ENST00000671824.1:c.1197_1214del	ENSP00000500264.1:p.Ala400_Ala405del
ENST00000672743.1:n.146_163del
ENST00000673284.1:c.1134_1151del	ENSP00000499852.1:p.Ala379_Ala384del
ENST00000336642.8:c.186_203del	ENSP00000338009.4:p.Ala63_Ala68del
ENST00000345378.6:c.1137_1154del	ENSP00000223366.2:p.Ala380_Ala385del
ENST00000395796.7:c.1131_1148del	ENSP00000379142.3:p.Ala378_Ala383del
ENST00000403799.7:c.1134_1151del	ENSP00000384247.3:p.Ala379_Ala384del
ENST00000437084.1:c.1083_1100del	ENSP00000402840.1:p.Ala362_Ala367del
ENST00000459642.1:n.514_531del
ENST00000616242.4:c.1131_1148del	ENSP00000482149.1:p.Ala378_Ala383del
NM_000162.3:c.1134_1151del	NP_000153.1:p.Ala379_Ala384del
NM_033507.1:c.1137_1154del	NP_277042.1:p.Ala380_Ala385del
NM_033508.1:c.1131_1148del	NP_277043.1:p.Ala378_Ala383del
NM_000162.4:c.1134_1151del	NP_000153.1:p.Ala379_Ala384del
NM_001354800.1:c.1134_1151del	NP_001341729.1:p.Ala379_Ala384del
NM_001354801.1:c.123_140del	NP_001341730.1:p.Ala42_Ala47del
NM_001354802.1:c.-7_11del
NM_001354803.1:c.168_185del	NP_001341732.1:p.Ala57_Ala62del
NM_033507.2:c.1137_1154del	NP_277042.1:p.Ala380_Ala385del
NM_033508.2:c.1131_1148del	NP_277043.1:p.Ala378_Ala383del
XM_024446707.1:c.-7_11del
NM_000162.5:c.1134_1151del MANE Select	NP_000153.1:p.Ala379_Ala384del
NM_033507.3:c.1137_1154del	NP_277042.1:p.Ala380_Ala385del
NM_033508.3:c.1131_1148del	NP_277043.1:p.Ala378_Ala383del
NM_001354803.2:c.168_185del	NP_001341732.1:p.Ala57_Ala62del