Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621435_23621437delinsGTA , CM000678.2:g.23621435_23621437delinsGTA	GRCh38
NC_000016.9:g.23632756_23632758delinsGTA , CM000678.1:g.23632756_23632758delinsGTA	GRCh37
NC_000016.8:g.23540257_23540259delinsGTA	NCBI36
NG_007406.1:g.24921_24923delinsTAC , LRG_308:g.24921_24923delinsTAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3044_3046delinsTAC	ENSP00000460666.3:p.Ile1015=
ENST00000565038.2:c.519_521delinsTAC	ENSP00000459882.2:n.519_521delinsTAC
ENST00000566069.6:c.3038_3040delinsTAC	ENSP00000459237.2:p.Ile1013=
ENST00000697377.2:c.2882_2884delinsTAC	ENSP00000513286.2:p.Ile961=
ENST00000697379.2:c.3044_3046delinsTAC	ENSP00000513287.2:p.Ile1015=
ENST00000561514.2:c.2153_2155delinsTAC	ENSP00000460666.2:p.Ile718=
ENST00000697374.1:c.2153_2155delinsTAC	ENSP00000513284.1:p.Ile718=
ENST00000697375.1:n.4385_4387delinsTAC
ENST00000697376.1:c.2153_2155delinsTAC	ENSP00000513285.1:p.Ile718=
ENST00000697377.1:c.1991_1993delinsTAC	ENSP00000513286.1:p.Ile664=
ENST00000697378.1:n.3558_3560delinsTAC
ENST00000697379.1:c.2153_2155delinsTAC	ENSP00000513287.1:p.Ile718=
ENST00000697380.1:n.2330_2332delinsTAC
ENST00000697381.1:n.1733_1735delinsTAC
ENST00000697382.1:c.2153_2155delinsTAC	ENSP00000513288.1:p.Ile718=
ENST00000697383.1:c.572_574delinsTAC	ENSP00000513289.1:p.Ile191=
ENST00000261584.9:c.3038_3040delinsTAC MANE Select	ENSP00000261584.4:p.Ile1013=
ENST00000261584.8:c.3038_3040delinsTAC	ENSP00000261584.4:p.Ile1013=
ENST00000568219.5:c.2153_2155delinsTAC	ENSP00000454703.2:p.Ile718=
NM_024675.3:c.3038_3040delinsTAC , LRG_308t1:c.3038_3040delinsTAC	NP_078951.2:p.Ile1013=
XM_011545946.1:c.3044_3046delinsTAC	XP_011544248.1:p.Ile1015=
XM_011545947.1:c.3044_3046delinsTAC	XP_011544249.1:p.Ile1015=
XM_011545948.1:c.2153_2155delinsTAC	XP_011544250.1:p.Ile718=
XR_950851.1:n.3834_3836delinsTAC
XM_011545946.2:c.3044_3046delinsTAC	XP_011544248.1:p.Ile1015=
XM_011545947.2:c.3044_3046delinsTAC	XP_011544249.1:p.Ile1015=
XM_011545948.2:c.2153_2155delinsTAC	XP_011544250.1:p.Ile718=
XM_017023671.1:c.3044_3046delinsTAC	XP_016879160.1:p.Ile1015=
XM_017023672.2:c.3038_3040delinsTAC	XP_016879161.1:p.Ile1013=
XM_017023673.2:c.3038_3040delinsTAC	XP_016879162.1:p.Ile1013=
NM_024675.4:c.3038_3040delinsTAC MANE Select	NP_078951.2:p.Ile1013=