Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.19919050_19919051del , CM000684.2:g.19919050_19919051del	GRCh38
NC_000022.10:g.19906573_19906574del , CM000684.1:g.19906573_19906574del	GRCh37
NC_000022.9:g.18286573_18286574del	NCBI36
NG_011835.1:g.27786_27787del , LRG_417:g.27786_27787del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400521.7:c.230-47_230-46del MANE Select	ENSP00000383365.1:n.230-47_230-46del
ENST00000334363.14:c.230-47_230-46del	ENSP00000334451.9:n.230-47_230-46del
ENST00000400518.5:c.140-47_140-46del	ENSP00000383362.1:n.140-47_140-46del
ENST00000400519.6:c.227-47_227-46del	ENSP00000383363.1:n.227-47_227-46del
ENST00000400521.6:c.230-47_230-46del	ENSP00000383365.1:n.230-47_230-46del
ENST00000400525.6:c.161-47_161-46del	ENSP00000383369.3:n.161-47_161-46del
ENST00000474308.5:c.173-47_173-46del	ENSP00000485665.1:n.173-47_173-46del
ENST00000491939.6:c.134-47_134-46del	ENSP00000485543.1:n.134-47_134-46del
ENST00000496729.2:n.235-47_235-46del
ENST00000542719.6:c.-59-47_-59-46del	ENSP00000485128.2:n.-59-47_-59-46del
NM_001282512.1:c.230-47_230-46del	NP_001269441.1:n.230-47_230-46del
NM_006440.4:c.230-47_230-46del	NP_006431.2:n.230-47_230-46del
NM_001282512.2:c.230-47_230-46del	NP_001269441.1:n.230-47_230-46del
NM_001352300.1:c.227-47_227-46del	NP_001339229.1:n.227-47_227-46del
NM_001352301.1:c.140-47_140-46del	NP_001339230.1:n.140-47_140-46del
NM_001352302.1:c.-59-47_-59-46del	NP_001339231.1:n.-59-47_-59-46del
NM_001352303.1:c.134-47_134-46del	NP_001339232.1:n.134-47_134-46del
NR_147957.1:n.362-47_362-46del
NM_006440.5:c.230-47_230-46del MANE Select	NP_006431.2:n.230-47_230-46del
NM_001282512.3:c.230-47_230-46del	NP_001269441.1:n.230-47_230-46del
NM_001352300.2:c.227-47_227-46del	NP_001339229.1:n.227-47_227-46del
NR_147957.2:n.188-47_188-46del
NM_001352301.2:c.140-47_140-46del	NP_001339230.1:n.140-47_140-46del
NM_001352302.2:c.-59-47_-59-46del	NP_001339231.1:n.-59-47_-59-46del
NM_001352303.2:c.134-47_134-46del	NP_001339232.1:n.134-47_134-46del