Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091365_43091366del , CM000679.2:g.43091365_43091366del	GRCh38
NC_000017.10:g.41243382_41243383del , CM000679.1:g.41243382_41243383del	GRCh37
NC_000017.9:g.38496908_38496909del	NCBI36
NG_005905.2:g.126620_126621del , LRG_292:g.126620_126621del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4231_4232del
ENST00000461574.2:c.4096+71_4096+72del	ENSP00000417241.2:n.4096+71_4096+72del
ENST00000470026.6:c.4096+71_4096+72del	ENSP00000419274.2:n.4096+71_4096+72del
ENST00000473961.6:c.3970+71_3970+72del	ENSP00000420201.2:n.3970+71_3970+72del
ENST00000476777.6:c.4093+71_4093+72del	ENSP00000417554.2:n.4093+71_4093+72del
ENST00000477152.6:c.4018+71_4018+72del	ENSP00000419988.2:n.4018+71_4018+72del
ENST00000478531.6:c.785-332_785-331del	ENSP00000420412.2:n.785-332_785-331del
ENST00000489037.2:c.4018+71_4018+72del	ENSP00000420781.2:n.4018+71_4018+72del
ENST00000493919.6:c.647-332_647-331del	ENSP00000418819.2:n.647-332_647-331del
ENST00000494123.6:c.4096+71_4096+72del	ENSP00000419103.2:n.4096+71_4096+72del
ENST00000497488.2:c.3208+71_3208+72del	ENSP00000418986.2:n.3208+71_3208+72del
ENST00000618469.2:c.4096+71_4096+72del	ENSP00000478114.2:n.4096+71_4096+72del
ENST00000634433.2:c.3973+71_3973+72del	ENSP00000489431.2:n.3973+71_3973+72del
ENST00000644379.2:c.4096+71_4096+72del	ENSP00000496570.2:n.4096+71_4096+72del
ENST00000644555.2:c.647-332_647-331del	ENSP00000494614.2:n.647-332_647-331del
ENST00000652672.2:c.3955+71_3955+72del	ENSP00000498906.2:n.3955+71_3955+72del
ENST00000484087.6:c.665-332_665-331del	ENSP00000419481.2:n.665-332_665-331del
ENST00000700182.1:c.707-332_707-331del	ENSP00000514849.1:n.707-332_707-331del
ENST00000357654.9:c.4096+71_4096+72del MANE Select	ENSP00000350283.3:n.4096+71_4096+72del
ENST00000471181.7:c.4096+71_4096+72del	ENSP00000418960.2:n.4096+71_4096+72del
ENST00000644379.1:c.417+71_417+72del
ENST00000352993.7:c.671-332_671-331del	ENSP00000312236.5:n.671-332_671-331del
ENST00000354071.7:c.4167_4168del	ENSP00000326002.7:p.Glu1390AlafsTer9
ENST00000357654.7:c.4096+71_4096+72del	ENSP00000350283.3:n.4096+71_4096+72del
ENST00000461221.5:c.3879+71_3879+72del	ENSP00000418548.1:n.3879+71_3879+72del
ENST00000461574.1:c.390+71_390+72del
ENST00000468300.5:c.788-332_788-331del	ENSP00000417148.1:n.788-332_788-331del
ENST00000471181.6:c.4096+71_4096+72del	ENSP00000418960.2:n.4096+71_4096+72del
ENST00000478531.5:c.785-332_785-331del	ENSP00000420412.1:n.785-332_785-331del
ENST00000484087.5:c.410-332_410-331del	ENSP00000419481.1:n.410-332_410-331del
ENST00000487825.5:c.413-332_413-331del	ENSP00000418212.1:n.413-332_413-331del
ENST00000491747.6:c.788-332_788-331del	ENSP00000420705.2:n.788-332_788-331del
ENST00000493795.5:c.3955+71_3955+72del	ENSP00000418775.1:n.3955+71_3955+72del
ENST00000493919.5:c.647-332_647-331del	ENSP00000418819.1:n.647-332_647-331del
ENST00000586385.5:c.5-27413_5-27412del	ENSP00000465818.1:n.5-27413_5-27412del
ENST00000591534.5:c.-43-16843_-43-16842del	ENSP00000467329.1:n.-43-16843_-43-16842del
ENST00000591849.5:c.-99+33907_-99+33908del	ENSP00000465347.1:n.-99+33907_-99+33908del
NM_007294.3:c.4096+71_4096+72del , LRG_292t1:c.4096+71_4096+72del	NP_009225.1:n.4096+71_4096+72del
NM_007297.3:c.3955+71_3955+72del	NP_009228.2:n.3955+71_3955+72del
NM_007298.3:c.788-332_788-331del	NP_009229.2:n.788-332_788-331del
NM_007299.3:c.788-332_788-331del	NP_009230.2:n.788-332_788-331del
NM_007300.3:c.4096+71_4096+72del	NP_009231.2:n.4096+71_4096+72del
NR_027676.1:n.4232+71_4232+72del
NM_007294.4:c.4096+71_4096+72del MANE Select	NP_009225.1:n.4096+71_4096+72del
NM_007297.4:c.3955+71_3955+72del	NP_009228.2:n.3955+71_3955+72del
NM_007299.4:c.788-332_788-331del	NP_009230.2:n.788-332_788-331del
NM_007300.4:c.4096+71_4096+72del	NP_009231.2:n.4096+71_4096+72del
NR_027676.2:n.4273+71_4273+72del