Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23621475_23621476delinsGC , CM000678.2:g.23621475_23621476delinsGC	GRCh38
NC_000016.9:g.23632796_23632797delinsGC , CM000678.1:g.23632796_23632797delinsGC	GRCh37
NC_000016.8:g.23540297_23540298delinsGC	NCBI36
NG_007406.1:g.24882_24883delinsGC , LRG_308:g.24882_24883delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3005_3006delinsGC	ENSP00000460666.3:p.Gly1002=
ENST00000565038.2:c.480_481delinsGC	ENSP00000459882.2:n.480_481delinsGC
ENST00000566069.6:c.2999_3000delinsGC	ENSP00000459237.2:p.Gly1000=
ENST00000697377.2:c.2843_2844delinsGC	ENSP00000513286.2:p.Gly948=
ENST00000697379.2:c.3005_3006delinsGC	ENSP00000513287.2:p.Gly1002=
ENST00000561514.2:c.2114_2115delinsGC	ENSP00000460666.2:p.Gly705=
ENST00000697374.1:c.2114_2115delinsGC	ENSP00000513284.1:p.Gly705=
ENST00000697375.1:n.4346_4347delinsGC
ENST00000697376.1:c.2114_2115delinsGC	ENSP00000513285.1:p.Gly705=
ENST00000697377.1:c.1952_1953delinsGC	ENSP00000513286.1:p.Gly651=
ENST00000697378.1:n.3519_3520delinsGC
ENST00000697379.1:c.2114_2115delinsGC	ENSP00000513287.1:p.Gly705=
ENST00000697380.1:n.2291_2292delinsGC
ENST00000697381.1:n.1694_1695delinsGC
ENST00000697382.1:c.2114_2115delinsGC	ENSP00000513288.1:p.Gly705=
ENST00000697383.1:c.533_534delinsGC	ENSP00000513289.1:p.Gly178=
ENST00000261584.9:c.2999_3000delinsGC MANE Select	ENSP00000261584.4:p.Gly1000=
ENST00000261584.8:c.2999_3000delinsGC	ENSP00000261584.4:p.Gly1000=
ENST00000568219.5:c.2114_2115delinsGC	ENSP00000454703.2:p.Gly705=
NM_024675.3:c.2999_3000delinsGC , LRG_308t1:c.2999_3000delinsGC	NP_078951.2:p.Gly1000=
XM_011545946.1:c.3005_3006delinsGC	XP_011544248.1:p.Gly1002=
XM_011545947.1:c.3005_3006delinsGC	XP_011544249.1:p.Gly1002=
XM_011545948.1:c.2114_2115delinsGC	XP_011544250.1:p.Gly705=
XR_950851.1:n.3795_3796delinsGC
XM_011545946.2:c.3005_3006delinsGC	XP_011544248.1:p.Gly1002=
XM_011545947.2:c.3005_3006delinsGC	XP_011544249.1:p.Gly1002=
XM_011545948.2:c.2114_2115delinsGC	XP_011544250.1:p.Gly705=
XM_017023671.1:c.3005_3006delinsGC	XP_016879160.1:p.Gly1002=
XM_017023672.2:c.2999_3000delinsGC	XP_016879161.1:p.Gly1000=
XM_017023673.2:c.2999_3000delinsGC	XP_016879162.1:p.Gly1000=
NM_024675.4:c.2999_3000delinsGC MANE Select	NP_078951.2:p.Gly1000=