Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510589_1510599delinsGGGGCAGGTGC , CM000678.2:g.1510589_1510599delinsGGGGCAGGTGC	GRCh38
NC_000016.9:g.1560590_1560600delinsGGGGCAGGTGC , CM000678.1:g.1560590_1560600delinsGGGGCAGGTGC	GRCh37
NC_000016.8:g.1500591_1500601delinsGGGGCAGGTGC	NCBI36
NG_032783.1:g.106510_106520delinsGCACCTGCCCC
NG_050910.1:g.22246_22256delinsGGGGCAGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.345_355delinsGCACCTGCCCC MANE Select	ENSP00000406012.2:n.345_355delinsGCACCTGCCCC
ENST00000361339.9:c.345_355delinsGCACCTGCCCC	ENSP00000354895.5:n.345_355delinsGCACCTGCCCC
ENST00000397417.6:c.3172_3182delinsGCACCTGCCCC	ENSP00000380562.2:n.3172_3182delinsGCACCTGCCCC
ENST00000426508.6:c.345_355delinsGCACCTGCCCC	ENSP00000406012.2:n.345_355delinsGCACCTGCCCC
ENST00000565298.5:n.4558_4568delinsGCACCTGCCCC
NM_014714.3:c.345_355delinsGCACCTGCCCC	NP_055529.2:n.345_355delinsGCACCTGCCCC
XM_006720989.2:c.345_355delinsGCACCTGCCCC	XP_006721052.1:n.345_355delinsGCACCTGCCCC
XM_006720990.2:c.345_355delinsGCACCTGCCCC	XP_006721053.1:n.345_355delinsGCACCTGCCCC
XM_006720991.2:c.345_355delinsGCACCTGCCCC	XP_006721054.1:n.345_355delinsGCACCTGCCCC
XM_006720992.2:c.345_355delinsGCACCTGCCCC	XP_006721055.1:n.345_355delinsGCACCTGCCCC
XM_011522766.1:c.345_355delinsGCACCTGCCCC	XP_011521068.1:n.345_355delinsGCACCTGCCCC
XM_011522767.1:c.345_355delinsGCACCTGCCCC	XP_011521069.1:n.345_355delinsGCACCTGCCCC
XM_006720990.3:c.345_355delinsGCACCTGCCCC	XP_006721053.1:n.345_355delinsGCACCTGCCCC
XM_006720991.3:c.345_355delinsGCACCTGCCCC	XP_006721054.1:n.345_355delinsGCACCTGCCCC
XM_006720992.3:c.345_355delinsGCACCTGCCCC	XP_006721055.1:n.345_355delinsGCACCTGCCCC
XM_011522766.3:c.345_355delinsGCACCTGCCCC	XP_011521068.1:n.345_355delinsGCACCTGCCCC
XM_011522767.2:c.345_355delinsGCACCTGCCCC	XP_011521069.1:n.345_355delinsGCACCTGCCCC
XM_017023910.1:c.345_355delinsGCACCTGCCCC	XP_016879399.1:n.345_355delinsGCACCTGCCCC
XM_017023911.1:c.345_355delinsGCACCTGCCCC	XP_016879400.1:n.345_355delinsGCACCTGCCCC
NM_014714.4:c.345_355delinsGCACCTGCCCC MANE Select	NP_055529.2:n.345_355delinsGCACCTGCCCC

HGVS	Amino-acid Change
ENST00000426508.7:c.345_355delinsGCACCTGCCCC MANE Select	ENSP00000406012.2:n.345_355delinsGCACCTGCCCC
ENST00000361339.9:c.345_355delinsGCACCTGCCCC	ENSP00000354895.5:n.345_355delinsGCACCTGCCCC
ENST00000397417.6:c.3172_3182delinsGCACCTGCCCC	ENSP00000380562.2:n.3172_3182delinsGCACCTGCCCC
ENST00000426508.6:c.345_355delinsGCACCTGCCCC	ENSP00000406012.2:n.345_355delinsGCACCTGCCCC
ENST00000565298.5:n.4558_4568delinsGCACCTGCCCC
NM_014714.3:c.345_355delinsGCACCTGCCCC	NP_055529.2:n.345_355delinsGCACCTGCCCC
XM_006720989.2:c.345_355delinsGCACCTGCCCC	XP_006721052.1:n.345_355delinsGCACCTGCCCC
XM_006720990.2:c.345_355delinsGCACCTGCCCC	XP_006721053.1:n.345_355delinsGCACCTGCCCC
XM_006720991.2:c.345_355delinsGCACCTGCCCC	XP_006721054.1:n.345_355delinsGCACCTGCCCC
XM_006720992.2:c.345_355delinsGCACCTGCCCC	XP_006721055.1:n.345_355delinsGCACCTGCCCC
XM_011522766.1:c.345_355delinsGCACCTGCCCC	XP_011521068.1:n.345_355delinsGCACCTGCCCC
XM_011522767.1:c.345_355delinsGCACCTGCCCC	XP_011521069.1:n.345_355delinsGCACCTGCCCC
XM_006720990.3:c.345_355delinsGCACCTGCCCC	XP_006721053.1:n.345_355delinsGCACCTGCCCC
XM_006720991.3:c.345_355delinsGCACCTGCCCC	XP_006721054.1:n.345_355delinsGCACCTGCCCC
XM_006720992.3:c.345_355delinsGCACCTGCCCC	XP_006721055.1:n.345_355delinsGCACCTGCCCC
XM_011522766.3:c.345_355delinsGCACCTGCCCC	XP_011521068.1:n.345_355delinsGCACCTGCCCC
XM_011522767.2:c.345_355delinsGCACCTGCCCC	XP_011521069.1:n.345_355delinsGCACCTGCCCC
XM_017023910.1:c.345_355delinsGCACCTGCCCC	XP_016879399.1:n.345_355delinsGCACCTGCCCC
XM_017023911.1:c.345_355delinsGCACCTGCCCC	XP_016879400.1:n.345_355delinsGCACCTGCCCC
NM_014714.4:c.345_355delinsGCACCTGCCCC MANE Select	NP_055529.2:n.345_355delinsGCACCTGCCCC