Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.16028846_16028847insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.2:g.16028846_16028847insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000017.10:g.15932160_15932161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000679.1:g.15932160_15932161insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000017.9:g.15872885_15872886insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_029806.1:g.34467_34468insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
NG_047111.1:g.192928_192929insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261647.10:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000261647.5:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000261647.9:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000261647.5:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000470649.1:c.247+2144_247+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000465627.1:n.247+2144_247+2145insAAAAAAAAAAAAAAAAAAAAA...
NM_001271420.1:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_017775.3:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_060245.3:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT...
XM_017024801.2:c.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880290.2:n.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017024802.2:c.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880291.2:n.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAA...
NM_017775.4:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_060245.3:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT...
NM_001271420.2:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...

HGVS	Amino-acid Change
ENST00000261647.10:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	ENSP00000261647.5:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000261647.9:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000261647.5:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAA...
ENST00000470649.1:c.247+2144_247+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ENSP00000465627.1:n.247+2144_247+2145insAAAAAAAAAAAAAAAAAAAAA...
NM_001271420.1:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...
NM_017775.3:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_060245.3:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT...
XM_017024801.2:c.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880290.2:n.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAA...
XM_017024802.2:c.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XP_016880291.2:n.994+2144_994+2145insAAAAAAAAAAAAAAAAAAAAAAAA...
NM_017775.4:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select	NP_060245.3:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT...
NM_001271420.2:c.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NP_001258349.1:n.1324_1325insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA...