Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68829864_68829865insAAAAAAAAAAA , CM000678.2:g.68829864_68829865insAAAAAAAAAAA	GRCh38
NC_000016.9:g.68863767_68863768insAAAAAAAAAAA , CM000678.1:g.68863767_68863768insAAAAAAAAAAA	GRCh37
NC_000016.8:g.67421268_67421269insAAAAAAAAAAA	NCBI36
NG_008021.1:g.97573_97574insAAAAAAAAAAA , LRG_301:g.97573_97574insAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.2439+67_2439+68insAAAAAAAAAAA MANE Select	ENSP00000261769.4:n.2439+67_2439+68insAAAAAAAAAAA
ENST00000261769.9:c.2439+67_2439+68insAAAAAAAAAAA	ENSP00000261769.4:n.2439+67_2439+68insAAAAAAAAAAA
ENST00000422392.6:c.2256+67_2256+68insAAAAAAAAAAA	ENSP00000414946.2:n.2256+67_2256+68insAAAAAAAAAAA
ENST00000562118.1:n.657+67_657+68insAAAAAAAAAAA
ENST00000562836.5:n.2510+67_2510+68insAAAAAAAAAAA
ENST00000566510.5:c.1105+67_1105+68insAAAAAAAAAAA	ENSP00000458139.1:n.1105+67_1105+68insAAAAAAAAAAA
ENST00000566612.5:c.679+67_679+68insAAAAAAAAAAA	ENSP00000454782.1:n.679+67_679+68insAAAAAAAAAAA
ENST00000611625.4:c.2502+67_2502+68insAAAAAAAAAAA	ENSP00000481063.1:n.2502+67_2502+68insAAAAAAAAAAA
ENST00000612417.4:c.1853+3310_1853+3311insAAAAAAAAAAA	ENSP00000478360.1:n.1853+3310_1853+3311insAAAAAAAAAAA
ENST00000621016.4:c.1866-4339_1866-4338insAAAAAAAAAAA	ENSP00000480664.1:n.1866-4339_1866-4338insAAAAAAAAAAA
NM_004360.3:c.2439+67_2439+68insAAAAAAAAAAA , LRG_301t1:c.2439+67_2439+68insAAAAAAAAAAA	NP_004351.1:n.2439+67_2439+68insAAAAAAAAAAA
XM_011523488.1:c.1704+67_1704+68insAAAAAAAAAAA	XP_011521790.1:n.1704+67_1704+68insAAAAAAAAAAA
XM_011523489.1:c.1704+67_1704+68insAAAAAAAAAAA	XP_011521791.1:n.1704+67_1704+68insAAAAAAAAAAA
NM_001317184.1:c.2256+67_2256+68insAAAAAAAAAAA	NP_001304113.1:n.2256+67_2256+68insAAAAAAAAAAA
NM_001317185.1:c.891+67_891+68insAAAAAAAAAAA	NP_001304114.1:n.891+67_891+68insAAAAAAAAAAA
NM_001317186.1:c.474+67_474+68insAAAAAAAAAAA	NP_001304115.1:n.474+67_474+68insAAAAAAAAAAA
NM_004360.4:c.2439+67_2439+68insAAAAAAAAAAA	NP_004351.1:n.2439+67_2439+68insAAAAAAAAAAA
NM_004360.5:c.2439+67_2439+68insAAAAAAAAAAA MANE Select	NP_004351.1:n.2439+67_2439+68insAAAAAAAAAAA
NM_001317184.2:c.2256+67_2256+68insAAAAAAAAAAA	NP_001304113.1:n.2256+67_2256+68insAAAAAAAAAAA
NM_001317185.2:c.891+67_891+68insAAAAAAAAAAA	NP_001304114.1:n.891+67_891+68insAAAAAAAAAAA
NM_001317186.2:c.474+67_474+68insAAAAAAAAAAA	NP_001304115.1:n.474+67_474+68insAAAAAAAAAAA