Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28284947_28284948insTA , CM000677.2:g.28284947_28284948insTA	GRCh38
NC_000015.9:g.28530093_28530094insTA , CM000677.1:g.28530093_28530094insTA	GRCh37
NC_000015.8:g.26203688_26203689insTA	NCBI36
NG_016355.1:g.42203_42204insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261609.13:c.323-4660_323-4659insAT MANE Select	ENSP00000261609.8:n.323-4660_323-4659insAT
ENST00000261609.11:c.323-4660_323-4659insAT	ENSP00000261609.7:n.323-4660_323-4659insAT
ENST00000564383.1:n.218-4660_218-4659insAT
ENST00000564734.5:c.193-4660_193-4659insAT	ENSP00000456237.1:n.193-4660_193-4659insAT
NM_004667.5:c.323-4660_323-4659insAT	NP_004658.3:n.323-4660_323-4659insAT
XM_005268276.3:c.209-4660_209-4659insAT	XP_005268333.1:n.209-4660_209-4659insAT
XM_005268277.3:c.209-4660_209-4659insAT	XP_005268334.1:n.209-4660_209-4659insAT
XM_006720726.2:c.323-4660_323-4659insAT	XP_006720789.1:n.323-4660_323-4659insAT
XM_006720727.2:c.323-4660_323-4659insAT	XP_006720790.1:n.323-4660_323-4659insAT
XM_011522133.1:c.322+7941_322+7942insAT	XP_011520435.1:n.322+7941_322+7942insAT
XM_011522135.1:c.323-4660_323-4659insAT	XP_011520437.1:n.323-4660_323-4659insAT
XM_011522136.1:c.323-4660_323-4659insAT	XP_011520438.1:n.323-4660_323-4659insAT
XM_011522137.1:c.323-4660_323-4659insAT	XP_011520439.1:n.323-4660_323-4659insAT
XR_931930.1:n.452-4660_452-4659insAT
XR_931931.1:n.452-4660_452-4659insAT
XM_005268276.5:c.209-4660_209-4659insAT	XP_005268333.1:n.209-4660_209-4659insAT
XM_006720726.3:c.323-4660_323-4659insAT	XP_006720789.1:n.323-4660_323-4659insAT
XM_006720727.3:c.323-4660_323-4659insAT	XP_006720790.1:n.323-4660_323-4659insAT
XM_017022695.1:c.209-4660_209-4659insAT	XP_016878184.1:n.209-4660_209-4659insAT
XM_017022696.1:c.209-4660_209-4659insAT	XP_016878185.1:n.209-4660_209-4659insAT
XR_001751410.1:n.453-4660_453-4659insAT
XR_931930.2:n.453-4660_453-4659insAT
NM_004667.6:c.323-4660_323-4659insAT MANE Select	NP_004658.3:n.323-4660_323-4659insAT