Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.149503125_149503127delinsCTT , CM000685.2:g.149503125_149503127delinsCTT	GRCh38
NC_000023.10:g.148584655_148584657delinsCTT , CM000685.1:g.148584655_148584657delinsCTT	GRCh37
NC_000023.9:g.148392560_148392562delinsCTT	NCBI36
NG_011900.3:g.7208_7210delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340855.11:c.418+185_418+187delinsAAG MANE Select	ENSP00000339801.6:n.418+185_418+187delinsAAG
ENST00000651111.1:c.-215-2090_-215-2088delinsAAG	ENSP00000498395.1:n.-215-2090_-215-2088delinsAAG
ENST00000340855.10:c.418+185_418+187delinsAAG	ENSP00000339801.6:n.418+185_418+187delinsAAG
ENST00000370441.8:c.418+185_418+187delinsAAG	ENSP00000359470.4:n.418+185_418+187delinsAAG
ENST00000422081.6:c.-215-2090_-215-2088delinsAAG	ENSP00000477056.1:n.-215-2090_-215-2088delinsAAG
ENST00000427113.2:n.770-904_770-902delinsAAG
ENST00000428056.6:c.63_65delinsAAG	ENSP00000390241.2:n.63_65delinsAAG
ENST00000441880.1:n.114-16029_114-16027delinsAAG
ENST00000464251.5:c.241+185_241+187delinsAAG	ENSP00000428980.1:n.241+185_241+187delinsAAG
ENST00000466323.5:c.418+185_418+187delinsAAG	ENSP00000418264.1:n.418+185_418+187delinsAAG
ENST00000490775.5:n.77+185_77+187delinsAAG
ENST00000523759.5:n.533-2090_533-2088delinsAAG
NM_000202.6:c.418+185_418+187delinsAAG	NP_000193.1:n.418+185_418+187delinsAAG
NM_001166550.2:c.148+185_148+187delinsAAG	NP_001160022.1:n.148+185_148+187delinsAAG
NM_006123.4:c.418+185_418+187delinsAAG	NP_006114.1:n.418+185_418+187delinsAAG
NR_104128.1:n.635+185_635+187delinsAAG
NM_000202.7:c.418+185_418+187delinsAAG	NP_000193.1:n.418+185_418+187delinsAAG
NM_001166550.3:c.148+185_148+187delinsAAG	NP_001160022.1:n.148+185_148+187delinsAAG
NM_000202.8:c.418+185_418+187delinsAAG MANE Select	NP_000193.1:n.418+185_418+187delinsAAG
NM_001166550.4:c.148+185_148+187delinsAAG	NP_001160022.1:n.148+185_148+187delinsAAG
NM_006123.5:c.418+185_418+187delinsAAG	NP_006114.1:n.418+185_418+187delinsAAG
NR_104128.2:n.587+185_587+187delinsAAG