Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799524_174799526delinsACC , CM000664.2:g.174799524_174799526delinsACC	GRCh38
NC_000002.11:g.175664252_175664254delinsACC , CM000664.1:g.175664252_175664254delinsACC	GRCh37
NC_000002.10:g.175372498_175372500delinsACC	NCBI36
NG_012642.1:g.210917_210919delinsGGT
NG_012642.2:g.210917_210919delinsGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000295497.12:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000409900.9:c.590_592delinsGGT MANE Select	ENSP00000386741.4:n.590_592delinsGGT
ENST00000443238.6:c.590_592delinsGGT	ENSP00000409798.2:n.590_592delinsGGT
ENST00000488080.6:n.1613_1615delinsGGT
ENST00000650731.1:c.590_592delinsGGT	ENSP00000499146.1:n.590_592delinsGGT
ENST00000650938.1:c.1356_1358delinsGGT
ENST00000651501.1:c.1417_1419delinsGGT	ENSP00000498894.1:n.1417_1419delinsGGT
ENST00000651717.1:c.1246_1248delinsGGT	ENSP00000499124.1:n.1246_1248delinsGGT
ENST00000652036.1:c.590_592delinsGGT	ENSP00000499139.1:n.590_592delinsGGT
ENST00000295497.11:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000409597.5:c.590_592delinsGGT	ENSP00000386469.1:n.590_592delinsGGT
ENST00000409900.7:c.590_592delinsGGT	ENSP00000386741.3:n.590_592delinsGGT
ENST00000488080.5:n.1821_1823delinsGGT
NM_001025201.3:c.590_592delinsGGT	NP_001020372.2:n.590_592delinsGGT
NM_001206602.1:c.590_592delinsGGT	NP_001193531.1:n.590_592delinsGGT
NM_001822.5:c.590_592delinsGGT	NP_001813.1:n.590_592delinsGGT
NR_038133.1:n.1836_1838delinsGGT
NM_001025201.4:c.590_592delinsGGT	NP_001020372.2:n.590_592delinsGGT
NM_001206602.2:c.590_592delinsGGT	NP_001193531.1:n.590_592delinsGGT
NM_001371513.1:c.590_592delinsGGT	NP_001358442.1:n.590_592delinsGGT
NM_001371514.1:c.590_592delinsGGT	NP_001358443.1:n.590_592delinsGGT
NM_001822.7:c.590_592delinsGGT MANE Select	NP_001813.1:n.590_592delinsGGT
NR_038133.2:n.1838_1840delinsGGT

HGVS	Amino-acid Change
ENST00000295497.13:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000295497.12:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000409900.9:c.590_592delinsGGT MANE Select	ENSP00000386741.4:n.590_592delinsGGT
ENST00000443238.6:c.590_592delinsGGT	ENSP00000409798.2:n.590_592delinsGGT
ENST00000488080.6:n.1613_1615delinsGGT
ENST00000650731.1:c.590_592delinsGGT	ENSP00000499146.1:n.590_592delinsGGT
ENST00000650938.1:c.1356_1358delinsGGT
ENST00000651501.1:c.1417_1419delinsGGT	ENSP00000498894.1:n.1417_1419delinsGGT
ENST00000651717.1:c.1246_1248delinsGGT	ENSP00000499124.1:n.1246_1248delinsGGT
ENST00000652036.1:c.590_592delinsGGT	ENSP00000499139.1:n.590_592delinsGGT
ENST00000295497.11:c.590_592delinsGGT	ENSP00000295497.7:n.590_592delinsGGT
ENST00000409597.5:c.590_592delinsGGT	ENSP00000386469.1:n.590_592delinsGGT
ENST00000409900.7:c.590_592delinsGGT	ENSP00000386741.3:n.590_592delinsGGT
ENST00000488080.5:n.1821_1823delinsGGT
NM_001025201.3:c.590_592delinsGGT	NP_001020372.2:n.590_592delinsGGT
NM_001206602.1:c.590_592delinsGGT	NP_001193531.1:n.590_592delinsGGT
NM_001822.5:c.590_592delinsGGT	NP_001813.1:n.590_592delinsGGT
NR_038133.1:n.1836_1838delinsGGT
NM_001025201.4:c.590_592delinsGGT	NP_001020372.2:n.590_592delinsGGT
NM_001206602.2:c.590_592delinsGGT	NP_001193531.1:n.590_592delinsGGT
NM_001371513.1:c.590_592delinsGGT	NP_001358442.1:n.590_592delinsGGT
NM_001371514.1:c.590_592delinsGGT	NP_001358443.1:n.590_592delinsGGT
NM_001822.7:c.590_592delinsGGT MANE Select	NP_001813.1:n.590_592delinsGGT
NR_038133.2:n.1838_1840delinsGGT