Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15424296_15424297insTAAAA , CM000664.2:g.15424296_15424297insTAAAA	GRCh38
NC_000002.11:g.15564420_15564421insTAAAA , CM000664.1:g.15564420_15564421insTAAAA	GRCh37
NC_000002.10:g.15481871_15481872insTAAAA	NCBI36
NG_032964.1:g.142053_142054insTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700061.1:c.674+19_674+20insTTTAT
ENST00000700062.1:c.674+19_674+20insTTTAT
ENST00000700065.1:n.2590+19_2590+20insTTTAT
ENST00000700066.1:c.2094+19_2094+20insTTTAT	ENSP00000514780.1:n.2094+19_2094+20insTTTAT
ENST00000281513.10:c.2577+19_2577+20insTTTAT MANE Select	ENSP00000281513.5:n.2577+19_2577+20insTTTAT
ENST00000281513.9:c.2577+19_2577+20insTTTAT	ENSP00000281513.5:n.2577+19_2577+20insTTTAT
ENST00000441755.5:c.78+19_78+20insTTTAT	ENSP00000396501.1:n.78+19_78+20insTTTAT
ENST00000442506.5:c.80+19_80+20insTTTAT
NM_015909.3:c.2577+19_2577+20insTTTAT	NP_056993.2:n.2577+19_2577+20insTTTAT
NR_052013.2:n.2621+19_2621+20insTTTAT
XM_011510357.1:c.2448+19_2448+20insTTTAT	XP_011508659.1:n.2448+19_2448+20insTTTAT
XM_011510358.1:c.2577+19_2577+20insTTTAT	XP_011508660.1:n.2577+19_2577+20insTTTAT
XM_011510359.1:c.1938+19_1938+20insTTTAT	XP_011508661.1:n.1938+19_1938+20insTTTAT
XM_011510360.1:c.378+19_378+20insTTTAT	XP_011508662.1:n.378+19_378+20insTTTAT
XM_011510361.1:c.369+19_369+20insTTTAT	XP_011508663.1:n.369+19_369+20insTTTAT
XM_011510357.2:c.2448+19_2448+20insTTTAT	XP_011508659.1:n.2448+19_2448+20insTTTAT
XM_011510358.2:c.2577+19_2577+20insTTTAT	XP_011508660.1:n.2577+19_2577+20insTTTAT
XM_011510360.2:c.378+19_378+20insTTTAT	XP_011508662.1:n.378+19_378+20insTTTAT
XM_011510361.2:c.369+19_369+20insTTTAT	XP_011508663.1:n.369+19_369+20insTTTAT
XM_017004317.1:c.2577+19_2577+20insTTTAT	XP_016859806.1:n.2577+19_2577+20insTTTAT
XM_024452961.1:c.1938+19_1938+20insTTTAT	XP_024308729.1:n.1938+19_1938+20insTTTAT
NM_015909.4:c.2577+19_2577+20insTTTAT MANE Select	NP_056993.2:n.2577+19_2577+20insTTTAT
NR_052013.3:n.2607+19_2607+20insTTTAT