Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.174800097_174800098insACA , CM000664.2:g.174800097_174800098insACA	GRCh38
NC_000002.11:g.175664825_175664826insACA , CM000664.1:g.175664825_175664826insACA	GRCh37
NC_000002.10:g.175373071_175373072insACA	NCBI36
NG_012642.1:g.210345_210346insTGT
NG_012642.2:g.210345_210346insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295497.13:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000295497.12:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000409900.9:c.18_19insTGT MANE Select	ENSP00000386741.4:n.18_19insTGT
ENST00000413882.6:c.18_19insTGT	ENSP00000410496.2:n.18_19insTGT
ENST00000443238.6:c.18_19insTGT	ENSP00000409798.2:n.18_19insTGT
ENST00000488080.6:n.1041_1042insTGT
ENST00000650731.1:c.18_19insTGT	ENSP00000499146.1:n.18_19insTGT
ENST00000650938.1:c.784_785insTGT
ENST00000651246.1:c.18_19insTGT	ENSP00000498484.1:n.18_19insTGT
ENST00000651501.1:c.845_846insTGT	ENSP00000498894.1:n.845_846insTGT
ENST00000651717.1:c.674_675insTGT	ENSP00000499124.1:n.674_675insTGT
ENST00000652036.1:c.18_19insTGT	ENSP00000499139.1:n.18_19insTGT
ENST00000295497.11:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000409156.7:c.18_19insTGT	ENSP00000386470.3:n.18_19insTGT
ENST00000409597.5:c.18_19insTGT	ENSP00000386469.1:n.18_19insTGT
ENST00000409900.7:c.18_19insTGT	ENSP00000386741.3:n.18_19insTGT
ENST00000488080.5:n.1249_1250insTGT
ENST00000492964.1:n.541_542insTGT
NM_001025201.3:c.18_19insTGT	NP_001020372.2:n.18_19insTGT
NM_001206602.1:c.18_19insTGT	NP_001193531.1:n.18_19insTGT
NM_001822.5:c.18_19insTGT	NP_001813.1:n.18_19insTGT
NR_038133.1:n.1264_1265insTGT
NM_001025201.4:c.18_19insTGT	NP_001020372.2:n.18_19insTGT
NM_001206602.2:c.18_19insTGT	NP_001193531.1:n.18_19insTGT
NM_001371513.1:c.18_19insTGT	NP_001358442.1:n.18_19insTGT
NM_001371514.1:c.18_19insTGT	NP_001358443.1:n.18_19insTGT
NM_001822.7:c.18_19insTGT MANE Select	NP_001813.1:n.18_19insTGT
NR_038133.2:n.1266_1267insTGT

HGVS	Amino-acid Change
ENST00000295497.13:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000295497.12:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000409900.9:c.18_19insTGT MANE Select	ENSP00000386741.4:n.18_19insTGT
ENST00000413882.6:c.18_19insTGT	ENSP00000410496.2:n.18_19insTGT
ENST00000443238.6:c.18_19insTGT	ENSP00000409798.2:n.18_19insTGT
ENST00000488080.6:n.1041_1042insTGT
ENST00000650731.1:c.18_19insTGT	ENSP00000499146.1:n.18_19insTGT
ENST00000650938.1:c.784_785insTGT
ENST00000651246.1:c.18_19insTGT	ENSP00000498484.1:n.18_19insTGT
ENST00000651501.1:c.845_846insTGT	ENSP00000498894.1:n.845_846insTGT
ENST00000651717.1:c.674_675insTGT	ENSP00000499124.1:n.674_675insTGT
ENST00000652036.1:c.18_19insTGT	ENSP00000499139.1:n.18_19insTGT
ENST00000295497.11:c.18_19insTGT	ENSP00000295497.7:n.18_19insTGT
ENST00000409156.7:c.18_19insTGT	ENSP00000386470.3:n.18_19insTGT
ENST00000409597.5:c.18_19insTGT	ENSP00000386469.1:n.18_19insTGT
ENST00000409900.7:c.18_19insTGT	ENSP00000386741.3:n.18_19insTGT
ENST00000488080.5:n.1249_1250insTGT
ENST00000492964.1:n.541_542insTGT
NM_001025201.3:c.18_19insTGT	NP_001020372.2:n.18_19insTGT
NM_001206602.1:c.18_19insTGT	NP_001193531.1:n.18_19insTGT
NM_001822.5:c.18_19insTGT	NP_001813.1:n.18_19insTGT
NR_038133.1:n.1264_1265insTGT
NM_001025201.4:c.18_19insTGT	NP_001020372.2:n.18_19insTGT
NM_001206602.2:c.18_19insTGT	NP_001193531.1:n.18_19insTGT
NM_001371513.1:c.18_19insTGT	NP_001358442.1:n.18_19insTGT
NM_001371514.1:c.18_19insTGT	NP_001358443.1:n.18_19insTGT
NM_001822.7:c.18_19insTGT MANE Select	NP_001813.1:n.18_19insTGT
NR_038133.2:n.1266_1267insTGT