Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621467_23621471delinsTTTTC , CM000678.2:g.23621467_23621471delinsTTTTC	GRCh38
NC_000016.9:g.23632788_23632792delinsTTTTC , CM000678.1:g.23632788_23632792delinsTTTTC	GRCh37
NC_000016.8:g.23540289_23540293delinsTTTTC	NCBI36
NG_007406.1:g.24887_24891delinsGAAAA , LRG_308:g.24887_24891delinsGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3010_3014delinsGAAAA	ENSP00000460666.3:p.Glu1004=
ENST00000565038.2:c.485_489delinsGAAAA	ENSP00000459882.2:n.485_489delinsGAAAA
ENST00000566069.6:c.3004_3008delinsGAAAA	ENSP00000459237.2:p.Glu1002=
ENST00000697377.2:c.2848_2852delinsGAAAA	ENSP00000513286.2:p.Glu950=
ENST00000697379.2:c.3010_3014delinsGAAAA	ENSP00000513287.2:p.Glu1004=
ENST00000561514.2:c.2119_2123delinsGAAAA	ENSP00000460666.2:p.Glu707=
ENST00000697374.1:c.2119_2123delinsGAAAA	ENSP00000513284.1:p.Glu707=
ENST00000697375.1:n.4351_4355delinsGAAAA
ENST00000697376.1:c.2119_2123delinsGAAAA	ENSP00000513285.1:p.Glu707=
ENST00000697377.1:c.1957_1961delinsGAAAA	ENSP00000513286.1:p.Glu653=
ENST00000697378.1:n.3524_3528delinsGAAAA
ENST00000697379.1:c.2119_2123delinsGAAAA	ENSP00000513287.1:p.Glu707=
ENST00000697380.1:n.2296_2300delinsGAAAA
ENST00000697381.1:n.1699_1703delinsGAAAA
ENST00000697382.1:c.2119_2123delinsGAAAA	ENSP00000513288.1:p.Glu707=
ENST00000697383.1:c.538_542delinsGAAAA	ENSP00000513289.1:p.Glu180=
ENST00000261584.9:c.3004_3008delinsGAAAA MANE Select	ENSP00000261584.4:p.Glu1002=
ENST00000261584.8:c.3004_3008delinsGAAAA	ENSP00000261584.4:p.Glu1002=
ENST00000568219.5:c.2119_2123delinsGAAAA	ENSP00000454703.2:p.Glu707=
NM_024675.3:c.3004_3008delinsGAAAA , LRG_308t1:c.3004_3008delinsGAAAA	NP_078951.2:p.Glu1002=
XM_011545946.1:c.3010_3014delinsGAAAA	XP_011544248.1:p.Glu1004=
XM_011545947.1:c.3010_3014delinsGAAAA	XP_011544249.1:p.Glu1004=
XM_011545948.1:c.2119_2123delinsGAAAA	XP_011544250.1:p.Glu707=
XR_950851.1:n.3800_3804delinsGAAAA
XM_011545946.2:c.3010_3014delinsGAAAA	XP_011544248.1:p.Glu1004=
XM_011545947.2:c.3010_3014delinsGAAAA	XP_011544249.1:p.Glu1004=
XM_011545948.2:c.2119_2123delinsGAAAA	XP_011544250.1:p.Glu707=
XM_017023671.1:c.3010_3014delinsGAAAA	XP_016879160.1:p.Glu1004=
XM_017023672.2:c.3004_3008delinsGAAAA	XP_016879161.1:p.Glu1002=
XM_017023673.2:c.3004_3008delinsGAAAA	XP_016879162.1:p.Glu1002=
NM_024675.4:c.3004_3008delinsGAAAA MANE Select	NP_078951.2:p.Glu1002=