Allele Registry

HGVS	Genome Assembly
NC_000010.11:g.26697959_26697983delinsGCTCCGGGGTAGCTCCGGGGTGGGA , CM000672.2:g.26697959_26697983delinsGCTCCGGGGTAGCTCCGGGGTGGGA	GRCh38
NC_000010.10:g.26986888_26986912delinsGCTCCGGGGTAGCTCCGGGGTGGGA , CM000672.1:g.26986888_26986912delinsGCTCCGGGGTAGCTCCGGGGTGGGA	GRCh37
NC_000010.9:g.27026894_27026918delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NCBI36
NG_008972.1:g.5294_5318delinsGCTCCGGGGTAGCTCCGGGGTGGGA
NG_008972.2:g.5294_5318delinsGCTCCGGGGTAGCTCCGGGGTGGGA

HGVS	Amino-acid Change
ENST00000376215.10:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA MANE Select	ENSP00000365388.5:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGG...
ENST00000376215.9:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	ENSP00000365388.5:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGG...
NM_014317.3:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_055132.2:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
XR_428636.2:n.417+119_417+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
XR_930486.1:n.417+119_417+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
NM_001321978.1:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_001308907.1:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGG...
NM_001321979.1:c.-465+119_-465+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_001308908.1:n.-465+119_-465+143delinsGCTCCGGGGTAGCTCCGGGGT...
NM_014317.4:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_055132.2:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
XM_024447922.1:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	XP_024303690.1:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGG...
XR_428636.4:n.417+119_417+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
NM_014317.5:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA MANE Select	NP_055132.2:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA
NM_001321978.2:c.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_001308907.1:n.129+119_129+143delinsGCTCCGGGGTAGCTCCGGGGTGG...
NM_001321979.2:c.-465+119_-465+143delinsGCTCCGGGGTAGCTCCGGGGTGGGA	NP_001308908.1:n.-465+119_-465+143delinsGCTCCGGGGTAGCTCCGGGGT...