Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116759344_116759345insA , CM000669.2:g.116759344_116759345insA	GRCh38
NC_000007.13:g.116399398_116399399insA , CM000669.1:g.116399398_116399399insA	GRCh37
NC_000007.12:g.116186634_116186635insA	NCBI36
NG_008996.1:g.91940_91941insA , LRG_662:g.91940_91941insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000422097.2:c.2265-47_2265-46insA	ENSP00000398776.2:n.2265-47_2265-46insA
ENST00000436117.3:c.2264+724_2264+725insA	ENSP00000410980.2:n.2264+724_2264+725insA
ENST00000318493.11:c.2272_2273insA	ENSP00000317272.6:p.Trp758Ter
ENST00000397752.8:c.2265-47_2265-46insA MANE Select	ENSP00000380860.3:n.2265-47_2265-46insA
ENST00000318493.10:c.2272_2273insA	ENSP00000317272.6:p.Trp758Ter
ENST00000397752.7:c.2265-47_2265-46insA	ENSP00000380860.3:n.2265-47_2265-46insA
ENST00000422097.1:c.105-47_105-46insA	ENSP00000398776.1:n.105-47_105-46insA
ENST00000436117.2:c.2264+724_2264+725insA	ENSP00000410980.2:n.2264+724_2264+725insA
NM_000245.2:c.2265-47_2265-46insA	NP_000236.2:n.2265-47_2265-46insA
NM_001127500.1:c.2272_2273insA , LRG_662t1:c.2272_2273insA	NP_001120972.1:p.Trp758Ter
XM_006715990.2:c.975-47_975-46insA	XP_006716053.1:n.975-47_975-46insA
XM_006715991.2:c.975-47_975-46insA	XP_006716054.1:n.975-47_975-46insA
XM_011516223.1:c.2322-47_2322-46insA	XP_011514525.1:n.2322-47_2322-46insA
NM_000245.3:c.2265-47_2265-46insA	NP_000236.2:n.2265-47_2265-46insA
NM_001127500.2:c.2272_2273insA	NP_001120972.1:p.Trp758Ter
NM_001324401.1:c.2265-47_2265-46insA	NP_001311330.1:n.2265-47_2265-46insA
NM_001324402.1:c.975-47_975-46insA	NP_001311331.1:n.975-47_975-46insA
XR_001744772.1:n.2495+724_2495+725insA
NM_001127500.3:c.2272_2273insA	NP_001120972.1:p.Trp758Ter
NM_000245.4:c.2265-47_2265-46insA MANE Select	NP_000236.2:n.2265-47_2265-46insA
NM_001324401.2:c.2265-47_2265-46insA	NP_001311330.1:n.2265-47_2265-46insA
NM_001324402.2:c.975-47_975-46insA	NP_001311331.1:n.975-47_975-46insA
NM_001324401.3:c.2265-47_2265-46insA	NP_001311330.1:n.2265-47_2265-46insA