Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174799910_174799911delinsAG , CM000664.2:g.174799910_174799911delinsAG	GRCh38
NC_000002.11:g.175664638_175664639delinsAG , CM000664.1:g.175664638_175664639delinsAG	GRCh37
NC_000002.10:g.175372884_175372885delinsAG	NCBI36
NG_012642.1:g.210532_210533delinsCT
NG_012642.2:g.210532_210533delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000295497.12:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000409900.9:c.205_206delinsCT MANE Select	ENSP00000386741.4:n.205_206delinsCT
ENST00000413882.6:c.205_206delinsCT	ENSP00000410496.2:n.205_206delinsCT
ENST00000443238.6:c.205_206delinsCT	ENSP00000409798.2:n.205_206delinsCT
ENST00000488080.6:n.1228_1229delinsCT
ENST00000650731.1:c.205_206delinsCT	ENSP00000499146.1:n.205_206delinsCT
ENST00000650938.1:c.971_972delinsCT
ENST00000651246.1:c.205_206delinsCT	ENSP00000498484.1:n.205_206delinsCT
ENST00000651501.1:c.1032_1033delinsCT	ENSP00000498894.1:n.1032_1033delinsCT
ENST00000651717.1:c.861_862delinsCT	ENSP00000499124.1:n.861_862delinsCT
ENST00000652036.1:c.205_206delinsCT	ENSP00000499139.1:n.205_206delinsCT
ENST00000295497.11:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000409597.5:c.205_206delinsCT	ENSP00000386469.1:n.205_206delinsCT
ENST00000409900.7:c.205_206delinsCT	ENSP00000386741.3:n.205_206delinsCT
ENST00000488080.5:n.1436_1437delinsCT
ENST00000492964.1:n.728_729delinsCT
NM_001025201.3:c.205_206delinsCT	NP_001020372.2:n.205_206delinsCT
NM_001206602.1:c.205_206delinsCT	NP_001193531.1:n.205_206delinsCT
NM_001822.5:c.205_206delinsCT	NP_001813.1:n.205_206delinsCT
NR_038133.1:n.1451_1452delinsCT
NM_001025201.4:c.205_206delinsCT	NP_001020372.2:n.205_206delinsCT
NM_001206602.2:c.205_206delinsCT	NP_001193531.1:n.205_206delinsCT
NM_001371513.1:c.205_206delinsCT	NP_001358442.1:n.205_206delinsCT
NM_001371514.1:c.205_206delinsCT	NP_001358443.1:n.205_206delinsCT
NM_001822.7:c.205_206delinsCT MANE Select	NP_001813.1:n.205_206delinsCT
NR_038133.2:n.1453_1454delinsCT

HGVS	Amino-acid Change
ENST00000295497.13:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000295497.12:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000409900.9:c.205_206delinsCT MANE Select	ENSP00000386741.4:n.205_206delinsCT
ENST00000413882.6:c.205_206delinsCT	ENSP00000410496.2:n.205_206delinsCT
ENST00000443238.6:c.205_206delinsCT	ENSP00000409798.2:n.205_206delinsCT
ENST00000488080.6:n.1228_1229delinsCT
ENST00000650731.1:c.205_206delinsCT	ENSP00000499146.1:n.205_206delinsCT
ENST00000650938.1:c.971_972delinsCT
ENST00000651246.1:c.205_206delinsCT	ENSP00000498484.1:n.205_206delinsCT
ENST00000651501.1:c.1032_1033delinsCT	ENSP00000498894.1:n.1032_1033delinsCT
ENST00000651717.1:c.861_862delinsCT	ENSP00000499124.1:n.861_862delinsCT
ENST00000652036.1:c.205_206delinsCT	ENSP00000499139.1:n.205_206delinsCT
ENST00000295497.11:c.205_206delinsCT	ENSP00000295497.7:n.205_206delinsCT
ENST00000409597.5:c.205_206delinsCT	ENSP00000386469.1:n.205_206delinsCT
ENST00000409900.7:c.205_206delinsCT	ENSP00000386741.3:n.205_206delinsCT
ENST00000488080.5:n.1436_1437delinsCT
ENST00000492964.1:n.728_729delinsCT
NM_001025201.3:c.205_206delinsCT	NP_001020372.2:n.205_206delinsCT
NM_001206602.1:c.205_206delinsCT	NP_001193531.1:n.205_206delinsCT
NM_001822.5:c.205_206delinsCT	NP_001813.1:n.205_206delinsCT
NR_038133.1:n.1451_1452delinsCT
NM_001025201.4:c.205_206delinsCT	NP_001020372.2:n.205_206delinsCT
NM_001206602.2:c.205_206delinsCT	NP_001193531.1:n.205_206delinsCT
NM_001371513.1:c.205_206delinsCT	NP_001358442.1:n.205_206delinsCT
NM_001371514.1:c.205_206delinsCT	NP_001358443.1:n.205_206delinsCT
NM_001822.7:c.205_206delinsCT MANE Select	NP_001813.1:n.205_206delinsCT
NR_038133.2:n.1453_1454delinsCT