Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.31093728_31093729insAGGT , CM000678.2:g.31093728_31093729insAGGT	GRCh38
NC_000016.9:g.31105049_31105050insAGGT , CM000678.1:g.31105049_31105050insAGGT	GRCh37
NC_000016.8:g.31012550_31012551insAGGT	NCBI36
NG_011564.1:g.6227_6228insACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394975.3:c.174-308_174-307insACCT MANE Select	ENSP00000378426.2:n.174-308_174-307insACCT
ENST00000300851.10:c.174-247_174-246insACCT	ENSP00000300851.6:n.174-247_174-246insACCT
ENST00000319788.11:c.174-308_174-307insACCT	ENSP00000326135.7:n.174-308_174-307insACCT
ENST00000354895.4:c.173+828_173+829insACCT	ENSP00000346969.4:n.173+828_173+829insACCT
ENST00000394971.7:c.268-308_268-307insACCT	ENSP00000378422.3:n.268-308_268-307insACCT
ENST00000394975.2:c.174-308_174-307insACCT	ENSP00000378426.2:n.174-308_174-307insACCT
ENST00000420057.2:c.245+1660_245+1661insACCT
ENST00000498155.1:c.271-308_271-307insACCT	ENSP00000417662.1:n.271-308_271-307insACCT
ENST00000529564.1:c.174-308_174-307insACCT	ENSP00000431371.1:n.174-308_174-307insACCT
ENST00000532364.1:c.173+828_173+829insACCT	ENSP00000460316.1:n.173+828_173+829insACCT
ENST00000533518.5:c.47-308_47-307insACCT
NM_001311311.1:c.174-308_174-307insACCT	NP_001298240.1:n.174-308_174-307insACCT
NM_024006.4:c.174-308_174-307insACCT	NP_076869.1:n.174-308_174-307insACCT
NM_024006.5:c.174-308_174-307insACCT	NP_076869.1:n.174-308_174-307insACCT
NM_206824.1:c.173+828_173+829insACCT	NP_996560.1:n.173+828_173+829insACCT
NM_206824.2:c.173+828_173+829insACCT	NP_996560.1:n.173+828_173+829insACCT
XM_011545944.1:c.174-308_174-307insACCT	XP_011544246.1:n.174-308_174-307insACCT
XM_011545945.1:c.173+828_173+829insACCT	XP_011544247.1:n.173+828_173+829insACCT
XR_950848.1:n.962-308_962-307insACCT
NM_024006.6:c.174-308_174-307insACCT MANE Select	NP_076869.1:n.174-308_174-307insACCT
NM_001311311.2:c.174-308_174-307insACCT	NP_001298240.1:n.174-308_174-307insACCT
NM_206824.3:c.173+828_173+829insACCT	NP_996560.1:n.173+828_173+829insACCT