Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511191_1511192delinsAC , CM000678.2:g.1511191_1511192delinsAC	GRCh38
NC_000016.9:g.1561192_1561193delinsAC , CM000678.1:g.1561192_1561193delinsAC	GRCh37
NC_000016.8:g.1501193_1501194delinsAC	NCBI36
NG_032783.1:g.105917_105918delinsGT
NG_050910.1:g.22848_22849delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-42_4183-41delinsGT MANE Select	ENSP00000406012.2:n.4183-42_4183-41delinsGT
ENST00000361339.9:c.1765-42_1765-41delinsGT	ENSP00000354895.5:n.1765-42_1765-41delinsGT
ENST00000397417.6:c.2621-42_2621-41delinsGT	ENSP00000380562.2:n.2621-42_2621-41delinsGT
ENST00000426508.6:c.4183-42_4183-41delinsGT	ENSP00000406012.2:n.4183-42_4183-41delinsGT
ENST00000565298.5:n.4007-42_4007-41delinsGT
NM_014714.3:c.4183-42_4183-41delinsGT	NP_055529.2:n.4183-42_4183-41delinsGT
XM_006720989.2:c.4183-42_4183-41delinsGT	XP_006721052.1:n.4183-42_4183-41delinsGT
XM_006720990.2:c.4183-42_4183-41delinsGT	XP_006721053.1:n.4183-42_4183-41delinsGT
XM_006720991.2:c.4183-42_4183-41delinsGT	XP_006721054.1:n.4183-42_4183-41delinsGT
XM_006720992.2:c.1816-42_1816-41delinsGT	XP_006721055.1:n.1816-42_1816-41delinsGT
XM_011522766.1:c.3937-42_3937-41delinsGT	XP_011521068.1:n.3937-42_3937-41delinsGT
XM_011522767.1:c.3208-42_3208-41delinsGT	XP_011521069.1:n.3208-42_3208-41delinsGT
XM_006720990.3:c.4183-42_4183-41delinsGT	XP_006721053.1:n.4183-42_4183-41delinsGT
XM_006720991.3:c.4183-42_4183-41delinsGT	XP_006721054.1:n.4183-42_4183-41delinsGT
XM_006720992.3:c.1816-42_1816-41delinsGT	XP_006721055.1:n.1816-42_1816-41delinsGT
XM_011522766.3:c.3937-42_3937-41delinsGT	XP_011521068.1:n.3937-42_3937-41delinsGT
XM_011522767.2:c.3208-42_3208-41delinsGT	XP_011521069.1:n.3208-42_3208-41delinsGT
XM_017023910.1:c.4183-42_4183-41delinsGT	XP_016879399.1:n.4183-42_4183-41delinsGT
XM_017023911.1:c.2368-42_2368-41delinsGT	XP_016879400.1:n.2368-42_2368-41delinsGT
NM_014714.4:c.4183-42_4183-41delinsGT MANE Select	NP_055529.2:n.4183-42_4183-41delinsGT