Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.140360172_140360173delinsGC , CM000670.2:g.140360172_140360173delinsGC	GRCh38
NC_000008.10:g.141370271_141370272delinsGC , CM000670.1:g.141370271_141370272delinsGC	GRCh37
NC_000008.9:g.141439453_141439454delinsGC	NCBI36
NG_016478.2:g.103407_103408delinsGC
NG_016478.3:g.103407_103408delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438773.4:c.1372_1373delinsGC MANE Select	ENSP00000405060.3:p.Ala458=
ENST00000648948.2:c.1372_1373delinsGC	ENSP00000498020.1:p.Ala458=
ENST00000389328.8:c.1666_1667delinsGC	ENSP00000373979.4:p.Ala556=
ENST00000438773.2:c.1372_1373delinsGC	ENSP00000405060.2:p.Ala458=
ENST00000520857.5:c.902_903delinsGC
NM_001160372.2:c.1372_1373delinsGC	NP_001153844.1:p.Ala458=
NM_031466.6:c.1666_1667delinsGC	NP_113654.4:p.Ala556=
XM_005251077.3:c.1372_1373delinsGC	XP_005251134.1:p.Ala458=
XM_011517326.1:c.1639_1640delinsGC	XP_011515628.1:p.Ala547=
XM_011517327.1:c.1666_1667delinsGC	XP_011515629.1:p.Ala556=
XM_011517328.1:c.1666_1667delinsGC	XP_011515630.1:p.Ala556=
XM_011517329.1:c.760_761delinsGC	XP_011515631.1:p.Ala254=
XR_928355.1:n.1681_1682delinsGC
NM_001160372.3:c.1372_1373delinsGC	NP_001153844.1:p.Ala458=
NM_001321646.1:c.1345_1346delinsGC	NP_001308575.1:p.Ala449=
NM_031466.7:c.1666_1667delinsGC	NP_113654.4:p.Ala556=
XM_011517326.2:c.1639_1640delinsGC	XP_011515628.1:p.Ala547=
XM_011517328.2:c.1666_1667delinsGC	XP_011515630.1:p.Ala556=
XM_017013893.1:c.1666_1667delinsGC	XP_016869382.1:p.Ala556=
XM_017013894.2:c.-9_-8delinsGC	XP_016869383.1:n.-9_-8delinsGC
XR_928355.2:n.1681_1682delinsGC
NM_001160372.4:c.1372_1373delinsGC MANE Select	NP_001153844.1:p.Ala458=
NM_001321646.2:c.1345_1346delinsGC	NP_001308575.1:p.Ala449=
NM_001374682.1:c.1393_1394delinsGC	NP_001361611.1:p.Ala465=
NM_001374683.1:c.1372_1373delinsGC	NP_001361612.1:p.Ala458=
NM_001374684.1:c.1351+10791_1351+10792delinsGC	NP_001361613.1:n.1351+10791_1351+10792delinsGC
NM_031466.8:c.1372_1373delinsGC	NP_113654.5:p.Ala458=
NR_164662.1:n.1461_1462delinsGC