Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511241_1511242delinsAG , CM000678.2:g.1511241_1511242delinsAG	GRCh38
NC_000016.9:g.1561242_1561243delinsAG , CM000678.1:g.1561242_1561243delinsAG	GRCh37
NC_000016.8:g.1501243_1501244delinsAG	NCBI36
NG_032783.1:g.105867_105868delinsCT
NG_050910.1:g.22898_22899delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-92_4183-91delinsCT MANE Select	ENSP00000406012.2:n.4183-92_4183-91delinsCT
ENST00000361339.9:c.1765-92_1765-91delinsCT	ENSP00000354895.5:n.1765-92_1765-91delinsCT
ENST00000397417.6:c.2621-92_2621-91delinsCT	ENSP00000380562.2:n.2621-92_2621-91delinsCT
ENST00000426508.6:c.4183-92_4183-91delinsCT	ENSP00000406012.2:n.4183-92_4183-91delinsCT
ENST00000565298.5:n.4007-92_4007-91delinsCT
NM_014714.3:c.4183-92_4183-91delinsCT	NP_055529.2:n.4183-92_4183-91delinsCT
XM_006720989.2:c.4183-92_4183-91delinsCT	XP_006721052.1:n.4183-92_4183-91delinsCT
XM_006720990.2:c.4183-92_4183-91delinsCT	XP_006721053.1:n.4183-92_4183-91delinsCT
XM_006720991.2:c.4183-92_4183-91delinsCT	XP_006721054.1:n.4183-92_4183-91delinsCT
XM_006720992.2:c.1816-92_1816-91delinsCT	XP_006721055.1:n.1816-92_1816-91delinsCT
XM_011522766.1:c.3937-92_3937-91delinsCT	XP_011521068.1:n.3937-92_3937-91delinsCT
XM_011522767.1:c.3208-92_3208-91delinsCT	XP_011521069.1:n.3208-92_3208-91delinsCT
XM_006720990.3:c.4183-92_4183-91delinsCT	XP_006721053.1:n.4183-92_4183-91delinsCT
XM_006720991.3:c.4183-92_4183-91delinsCT	XP_006721054.1:n.4183-92_4183-91delinsCT
XM_006720992.3:c.1816-92_1816-91delinsCT	XP_006721055.1:n.1816-92_1816-91delinsCT
XM_011522766.3:c.3937-92_3937-91delinsCT	XP_011521068.1:n.3937-92_3937-91delinsCT
XM_011522767.2:c.3208-92_3208-91delinsCT	XP_011521069.1:n.3208-92_3208-91delinsCT
XM_017023910.1:c.4183-92_4183-91delinsCT	XP_016879399.1:n.4183-92_4183-91delinsCT
XM_017023911.1:c.2368-92_2368-91delinsCT	XP_016879400.1:n.2368-92_2368-91delinsCT
NM_014714.4:c.4183-92_4183-91delinsCT MANE Select	NP_055529.2:n.4183-92_4183-91delinsCT