Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21968187_21968189del , CM000671.2:g.21968187_21968189del	GRCh38
NC_000009.11:g.21968186_21968188del , CM000671.1:g.21968186_21968188del	GRCh37
NC_000009.10:g.21958186_21958188del	NCBI36
NG_007485.1:g.31307_31309del , LRG_11:g.31307_31309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304494.10:c.44_46del MANE Select	ENSP00000307101.5:n.44_46del
ENST00000404796.3:c.348-61246_348-61244del	ENSP00000385916.2:n.348-61246_348-61244del
ENST00000579755.2:c.159_161del MANE Plus Clinical	ENSP00000462950.1:n.159_161del
ENST00000304494.9:c.44_46del	ENSP00000307101.5:n.44_46del
ENST00000361570.4:c.44_46del	ENSP00000355153.4:n.44_46del
ENST00000380151.3:c.789_791del	ENSP00000369496.3:n.789_791del
ENST00000404796.2:c.348-61246_348-61244del	ENSP00000385916.2:n.348-61246_348-61244del
ENST00000494262.5:c.44_46del	ENSP00000464952.1:n.44_46del
ENST00000498124.1:c.208_210del	ENSP00000418915.1:n.208_210del
ENST00000498628.6:c.44_46del	ENSP00000467857.1:n.44_46del
ENST00000530628.2:c.85_87del	ENSP00000432664.2:n.85_87del
ENST00000578845.2:c.44_46del	ENSP00000467390.1:n.44_46del
ENST00000579122.1:c.24_26del	ENSP00000464202.1:n.24_26del
ENST00000579755.1:c.159_161del	ENSP00000462950.1:n.159_161del
NM_000077.4:c.44_46del , LRG_11t1:c.44_46del	NP_000068.1:n.44_46del
NM_001195132.1:c.208_210del	NP_001182061.1:n.208_210del
NM_058195.3:c.159_161del , LRG_11t2:c.159_161del	NP_478102.2:n.159_161del
NM_058197.4:c.789_791del	NP_478104.2:n.789_791del
XM_005251343.1:c.44_46del	XP_005251400.1:n.44_46del
XM_011517679.1:c.44_46del	XP_011515981.1:n.44_46del
NM_001363763.1:c.44_46del	NP_001350692.1:n.44_46del
NM_001363763.2:c.44_46del	NP_001350692.1:n.44_46del
NM_000077.5:c.44_46del MANE Select	NP_000068.1:n.44_46del
NM_001195132.2:c.208_210del	NP_001182061.1:n.208_210del
NM_058195.4:c.159_161del MANE Plus Clinical	NP_478102.2:n.159_161del
NM_058197.5:c.438_440del	NP_478104.2:n.438_440del

HGVS	Amino-acid Change
ENST00000304494.10:c.44_46del MANE Select	ENSP00000307101.5:n.44_46del
ENST00000404796.3:c.348-61246_348-61244del	ENSP00000385916.2:n.348-61246_348-61244del
ENST00000579755.2:c.159_161del MANE Plus Clinical	ENSP00000462950.1:n.159_161del
ENST00000304494.9:c.44_46del	ENSP00000307101.5:n.44_46del
ENST00000361570.4:c.44_46del	ENSP00000355153.4:n.44_46del
ENST00000380151.3:c.789_791del	ENSP00000369496.3:n.789_791del
ENST00000404796.2:c.348-61246_348-61244del	ENSP00000385916.2:n.348-61246_348-61244del
ENST00000494262.5:c.44_46del	ENSP00000464952.1:n.44_46del
ENST00000498124.1:c.208_210del	ENSP00000418915.1:n.208_210del
ENST00000498628.6:c.44_46del	ENSP00000467857.1:n.44_46del
ENST00000530628.2:c.85_87del	ENSP00000432664.2:n.85_87del
ENST00000578845.2:c.44_46del	ENSP00000467390.1:n.44_46del
ENST00000579122.1:c.24_26del	ENSP00000464202.1:n.24_26del
ENST00000579755.1:c.159_161del	ENSP00000462950.1:n.159_161del
NM_000077.4:c.44_46del , LRG_11t1:c.44_46del	NP_000068.1:n.44_46del
NM_001195132.1:c.208_210del	NP_001182061.1:n.208_210del
NM_058195.3:c.159_161del , LRG_11t2:c.159_161del	NP_478102.2:n.159_161del
NM_058197.4:c.789_791del	NP_478104.2:n.789_791del
XM_005251343.1:c.44_46del	XP_005251400.1:n.44_46del
XM_011517679.1:c.44_46del	XP_011515981.1:n.44_46del
NM_001363763.1:c.44_46del	NP_001350692.1:n.44_46del
NM_001363763.2:c.44_46del	NP_001350692.1:n.44_46del
NM_000077.5:c.44_46del MANE Select	NP_000068.1:n.44_46del
NM_001195132.2:c.208_210del	NP_001182061.1:n.208_210del
NM_058195.4:c.159_161del MANE Plus Clinical	NP_478102.2:n.159_161del
NM_058197.5:c.438_440del	NP_478104.2:n.438_440del