Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150861213_150861225delinsGCCCCCAGTTCCT , CM000669.2:g.150861213_150861225delinsGCCCCCAGTTCCT	GRCh38
NC_000007.13:g.150558301_150558313delinsGCCCCCAGTTCCT , CM000669.1:g.150558301_150558313delinsGCCCCCAGTTCCT	GRCh37
NC_000007.12:g.150189234_150189246delinsGCCCCCAGTTCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360937.9:c.4_16delinsGCCCCCAGTTCCT MANE Select	ENSP00000354193.4:n.4_16delinsGCCCCCAGTTCCT
ENST00000360937.8:c.4_16delinsGCCCCCAGTTCCT	ENSP00000354193.4:n.4_16delinsGCCCCCAGTTCCT
ENST00000416793.6:c.4_16delinsGCCCCCAGTTCCT	ENSP00000411613.2:n.4_16delinsGCCCCCAGTTCCT
ENST00000467291.5:c.4_16delinsGCCCCCAGTTCCT	ENSP00000418328.1:n.4_16delinsGCCCCCAGTTCCT
ENST00000493429.5:c.4_16delinsGCCCCCAGTTCCT	ENSP00000418614.1:n.4_16delinsGCCCCCAGTTCCT
ENST00000619575.1:c.117_129delinsGCCCCCAGTTCCT	ENSP00000481717.1:n.117_129delinsGCCCCCAGTTCCT
ENST00000622116.4:c.252_264delinsGCCCCCAGTTCCT	ENSP00000481520.1:n.252_264delinsGCCCCCAGTTCCT
NM_001091.3:c.4_16delinsGCCCCCAGTTCCT	NP_001082.2:n.4_16delinsGCCCCCAGTTCCT
NM_001272072.1:c.4_16delinsGCCCCCAGTTCCT	NP_001259001.1:n.4_16delinsGCCCCCAGTTCCT
XM_011516008.1:c.4_16delinsGCCCCCAGTTCCT	XP_011514310.1:n.4_16delinsGCCCCCAGTTCCT
XM_011516009.1:c.4_16delinsGCCCCCAGTTCCT	XP_011514311.1:n.4_16delinsGCCCCCAGTTCCT
XR_928169.1:n.295+15784_295+15796delinsAGGAACTGGGGGC
XR_928170.1:n.425+7391_425+7403delinsAGGAACTGGGGGC
XR_928171.1:n.297+15784_297+15796delinsAGGAACTGGGGGC
XM_017011944.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867433.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011945.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867434.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011946.2:c.4_16delinsGCCCCCAGTTCCT	XP_016867435.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011947.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867436.1:n.4_16delinsGCCCCCAGTTCCT
XR_928169.2:n.301+15784_301+15796delinsAGGAACTGGGGGC
XR_928171.2:n.301+15784_301+15796delinsAGGAACTGGGGGC
NM_001091.4:c.4_16delinsGCCCCCAGTTCCT MANE Select	NP_001082.2:n.4_16delinsGCCCCCAGTTCCT
NM_001272072.2:c.4_16delinsGCCCCCAGTTCCT	NP_001259001.1:n.4_16delinsGCCCCCAGTTCCT

HGVS	Amino-acid Change
ENST00000360937.9:c.4_16delinsGCCCCCAGTTCCT MANE Select	ENSP00000354193.4:n.4_16delinsGCCCCCAGTTCCT
ENST00000360937.8:c.4_16delinsGCCCCCAGTTCCT	ENSP00000354193.4:n.4_16delinsGCCCCCAGTTCCT
ENST00000416793.6:c.4_16delinsGCCCCCAGTTCCT	ENSP00000411613.2:n.4_16delinsGCCCCCAGTTCCT
ENST00000467291.5:c.4_16delinsGCCCCCAGTTCCT	ENSP00000418328.1:n.4_16delinsGCCCCCAGTTCCT
ENST00000493429.5:c.4_16delinsGCCCCCAGTTCCT	ENSP00000418614.1:n.4_16delinsGCCCCCAGTTCCT
ENST00000619575.1:c.117_129delinsGCCCCCAGTTCCT	ENSP00000481717.1:n.117_129delinsGCCCCCAGTTCCT
ENST00000622116.4:c.252_264delinsGCCCCCAGTTCCT	ENSP00000481520.1:n.252_264delinsGCCCCCAGTTCCT
NM_001091.3:c.4_16delinsGCCCCCAGTTCCT	NP_001082.2:n.4_16delinsGCCCCCAGTTCCT
NM_001272072.1:c.4_16delinsGCCCCCAGTTCCT	NP_001259001.1:n.4_16delinsGCCCCCAGTTCCT
XM_011516008.1:c.4_16delinsGCCCCCAGTTCCT	XP_011514310.1:n.4_16delinsGCCCCCAGTTCCT
XM_011516009.1:c.4_16delinsGCCCCCAGTTCCT	XP_011514311.1:n.4_16delinsGCCCCCAGTTCCT
XR_928169.1:n.295+15784_295+15796delinsAGGAACTGGGGGC
XR_928170.1:n.425+7391_425+7403delinsAGGAACTGGGGGC
XR_928171.1:n.297+15784_297+15796delinsAGGAACTGGGGGC
XM_017011944.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867433.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011945.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867434.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011946.2:c.4_16delinsGCCCCCAGTTCCT	XP_016867435.1:n.4_16delinsGCCCCCAGTTCCT
XM_017011947.1:c.4_16delinsGCCCCCAGTTCCT	XP_016867436.1:n.4_16delinsGCCCCCAGTTCCT
XR_928169.2:n.301+15784_301+15796delinsAGGAACTGGGGGC
XR_928171.2:n.301+15784_301+15796delinsAGGAACTGGGGGC
NM_001091.4:c.4_16delinsGCCCCCAGTTCCT MANE Select	NP_001082.2:n.4_16delinsGCCCCCAGTTCCT
NM_001272072.2:c.4_16delinsGCCCCCAGTTCCT	NP_001259001.1:n.4_16delinsGCCCCCAGTTCCT