Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621432_23621434delinsTTA , CM000678.2:g.23621432_23621434delinsTTA	GRCh38
NC_000016.9:g.23632753_23632755delinsTTA , CM000678.1:g.23632753_23632755delinsTTA	GRCh37
NC_000016.8:g.23540254_23540256delinsTTA	NCBI36
NG_007406.1:g.24924_24926delinsTAA , LRG_308:g.24924_24926delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3047_3049delinsTAA	ENSP00000460666.3:p.Leu1016=
ENST00000565038.2:c.522_524delinsTAA	ENSP00000459882.2:n.522_524delinsTAA
ENST00000566069.6:c.3041_3043delinsTAA	ENSP00000459237.2:p.Leu1014=
ENST00000697377.2:c.2885_2887delinsTAA	ENSP00000513286.2:p.Leu962=
ENST00000697379.2:c.3047_3049delinsTAA	ENSP00000513287.2:p.Leu1016=
ENST00000561514.2:c.2156_2158delinsTAA	ENSP00000460666.2:p.Leu719=
ENST00000697374.1:c.2156_2158delinsTAA	ENSP00000513284.1:p.Leu719=
ENST00000697375.1:n.4388_4390delinsTAA
ENST00000697376.1:c.2156_2158delinsTAA	ENSP00000513285.1:p.Leu719=
ENST00000697377.1:c.1994_1996delinsTAA	ENSP00000513286.1:p.Leu665=
ENST00000697378.1:n.3561_3563delinsTAA
ENST00000697379.1:c.2156_2158delinsTAA	ENSP00000513287.1:p.Leu719=
ENST00000697380.1:n.2333_2335delinsTAA
ENST00000697381.1:n.1736_1738delinsTAA
ENST00000697382.1:c.2156_2158delinsTAA	ENSP00000513288.1:p.Leu719=
ENST00000697383.1:c.575_577delinsTAA	ENSP00000513289.1:p.Leu192=
ENST00000261584.9:c.3041_3043delinsTAA MANE Select	ENSP00000261584.4:p.Leu1014=
ENST00000261584.8:c.3041_3043delinsTAA	ENSP00000261584.4:p.Leu1014=
ENST00000568219.5:c.2156_2158delinsTAA	ENSP00000454703.2:p.Leu719=
NM_024675.3:c.3041_3043delinsTAA , LRG_308t1:c.3041_3043delinsTAA	NP_078951.2:p.Leu1014=
XM_011545946.1:c.3047_3049delinsTAA	XP_011544248.1:p.Leu1016=
XM_011545947.1:c.3047_3049delinsTAA	XP_011544249.1:p.Leu1016=
XM_011545948.1:c.2156_2158delinsTAA	XP_011544250.1:p.Leu719=
XR_950851.1:n.3837_3839delinsTAA
XM_011545946.2:c.3047_3049delinsTAA	XP_011544248.1:p.Leu1016=
XM_011545947.2:c.3047_3049delinsTAA	XP_011544249.1:p.Leu1016=
XM_011545948.2:c.2156_2158delinsTAA	XP_011544250.1:p.Leu719=
XM_017023671.1:c.3047_3049delinsTAA	XP_016879160.1:p.Leu1016=
XM_017023672.2:c.3041_3043delinsTAA	XP_016879161.1:p.Leu1014=
XM_017023673.2:c.3041_3043delinsTAA	XP_016879162.1:p.Leu1014=
NM_024675.4:c.3041_3043delinsTAA MANE Select	NP_078951.2:p.Leu1014=