Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206034_58206035delinsTC , CM000679.2:g.58206034_58206035delinsTC	GRCh38
NC_000017.10:g.56283395_56283396delinsTC , CM000679.1:g.56283395_56283396delinsTC	GRCh37
NC_000017.9:g.53638394_53638395delinsTC	NCBI36
NG_013020.1:g.18307_18308delinsTC
NG_013032.1:g.18571_18572delinsGA , LRG_687:g.18571_18572delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.136_137delinsGA	ENSP00000316631.6:n.136_137delinsGA
ENST00000393119.7:c.44_45delinsGA MANE Select	ENSP00000376827.2:n.44_45delinsGA
ENST00000537529.7:c.44_45delinsGA	ENSP00000442096.3:n.44_45delinsGA
ENST00000675753.2:c.1343_1344delinsGA	ENSP00000502156.1:n.1343_1344delinsGA
ENST00000676787.1:c.44_45delinsGA	ENSP00000503999.1:n.44_45delinsGA
ENST00000677111.1:c.1198_1199delinsGA	ENSP00000504282.1:n.1198_1199delinsGA
ENST00000677160.1:n.2998_2999delinsGA
ENST00000677416.1:n.3045_3046delinsGA
ENST00000677486.1:c.1068_1069delinsGA	ENSP00000503852.1:n.1068_1069delinsGA
ENST00000677709.1:n.2424_2425delinsGA
ENST00000678011.1:n.2624_2625delinsGA
ENST00000678432.1:c.1498_1499delinsGA	ENSP00000504452.1:n.1498_1499delinsGA
ENST00000678463.1:c.1641_1642delinsGA	ENSP00000502984.1:p.Gly547=
ENST00000678568.1:c.1048_1049delinsGA	ENSP00000504754.1:n.1048_1049delinsGA
ENST00000678641.1:c.1068_1069delinsGA	ENSP00000503159.1:n.1068_1069delinsGA
ENST00000678763.1:n.2039_2040delinsGA
ENST00000313863.10:c.136_137delinsGA	ENSP00000316631.6:n.136_137delinsGA
ENST00000393119.6:c.44_45delinsGA	ENSP00000376827.2:n.44_45delinsGA
ENST00000393120.6:c.1131_1132delinsGA	ENSP00000376828.2:n.1131_1132delinsGA
ENST00000537529.6:c.44_45delinsGA	ENSP00000442096.2:n.44_45delinsGA
ENST00000583577.1:n.550_551delinsGA
NM_001165927.1:c.44_45delinsGA , LRG_687t2:c.44_45delinsGA	NP_001159399.1:n.44_45delinsGA
NM_017777.3:c.44_45delinsGA , LRG_687t1:c.44_45delinsGA	NP_060247.2:n.44_45delinsGA
XM_005257483.3:c.1641_1642delinsGA	XP_005257540.1:p.Gly547=
XM_005257485.3:c.1212_1213delinsGA	XP_005257542.1:p.Gly404=
XM_005257486.3:c.44_45delinsGA	XP_005257543.1:n.44_45delinsGA
XM_006721965.2:c.1032_1033delinsGA	XP_006722028.1:p.Gly344=
XM_011524957.1:c.1650_1651delinsGA	XP_011523259.1:p.Gly550=
XM_011524958.1:c.44_45delinsGA	XP_011523260.1:n.44_45delinsGA
XM_011524959.1:c.136_137delinsGA	XP_011523261.1:n.136_137delinsGA
NM_001321268.1:c.44_45delinsGA	NP_001308197.1:n.44_45delinsGA
NM_001321269.1:c.1641_1642delinsGA	NP_001308198.1:p.Gly547=
NM_001330397.1:c.136_137delinsGA	NP_001317326.1:n.136_137delinsGA
XM_005257485.4:c.1212_1213delinsGA	XP_005257542.1:p.Gly404=
XM_006721965.3:c.1032_1033delinsGA	XP_006722028.1:p.Gly344=
XM_011524957.2:c.1650_1651delinsGA	XP_011523259.1:p.Gly550=
XM_011524958.2:c.44_45delinsGA	XP_011523260.1:n.44_45delinsGA
XM_011524959.2:c.136_137delinsGA	XP_011523261.1:n.136_137delinsGA
XM_017024805.1:c.44_45delinsGA	XP_016880294.1:n.44_45delinsGA
XR_002958042.1:n.1652_1653delinsGA
NM_001321268.2:c.44_45delinsGA	NP_001308197.1:n.44_45delinsGA
NM_001321269.2:c.1641_1642delinsGA	NP_001308198.1:p.Gly547=
NM_001330397.2:c.136_137delinsGA	NP_001317326.1:n.136_137delinsGA
NM_017777.4:c.44_45delinsGA MANE Select	NP_060247.2:n.44_45delinsGA

HGVS	Amino-acid Change
ENST00000313863.11:c.136_137delinsGA	ENSP00000316631.6:n.136_137delinsGA
ENST00000393119.7:c.44_45delinsGA MANE Select	ENSP00000376827.2:n.44_45delinsGA
ENST00000537529.7:c.44_45delinsGA	ENSP00000442096.3:n.44_45delinsGA
ENST00000675753.2:c.1343_1344delinsGA	ENSP00000502156.1:n.1343_1344delinsGA
ENST00000676787.1:c.44_45delinsGA	ENSP00000503999.1:n.44_45delinsGA
ENST00000677111.1:c.1198_1199delinsGA	ENSP00000504282.1:n.1198_1199delinsGA
ENST00000677160.1:n.2998_2999delinsGA
ENST00000677416.1:n.3045_3046delinsGA
ENST00000677486.1:c.1068_1069delinsGA	ENSP00000503852.1:n.1068_1069delinsGA
ENST00000677709.1:n.2424_2425delinsGA
ENST00000678011.1:n.2624_2625delinsGA
ENST00000678432.1:c.1498_1499delinsGA	ENSP00000504452.1:n.1498_1499delinsGA
ENST00000678463.1:c.1641_1642delinsGA	ENSP00000502984.1:p.Gly547=
ENST00000678568.1:c.1048_1049delinsGA	ENSP00000504754.1:n.1048_1049delinsGA
ENST00000678641.1:c.1068_1069delinsGA	ENSP00000503159.1:n.1068_1069delinsGA
ENST00000678763.1:n.2039_2040delinsGA
ENST00000313863.10:c.136_137delinsGA	ENSP00000316631.6:n.136_137delinsGA
ENST00000393119.6:c.44_45delinsGA	ENSP00000376827.2:n.44_45delinsGA
ENST00000393120.6:c.1131_1132delinsGA	ENSP00000376828.2:n.1131_1132delinsGA
ENST00000537529.6:c.44_45delinsGA	ENSP00000442096.2:n.44_45delinsGA
ENST00000583577.1:n.550_551delinsGA
NM_001165927.1:c.44_45delinsGA , LRG_687t2:c.44_45delinsGA	NP_001159399.1:n.44_45delinsGA
NM_017777.3:c.44_45delinsGA , LRG_687t1:c.44_45delinsGA	NP_060247.2:n.44_45delinsGA
XM_005257483.3:c.1641_1642delinsGA	XP_005257540.1:p.Gly547=
XM_005257485.3:c.1212_1213delinsGA	XP_005257542.1:p.Gly404=
XM_005257486.3:c.44_45delinsGA	XP_005257543.1:n.44_45delinsGA
XM_006721965.2:c.1032_1033delinsGA	XP_006722028.1:p.Gly344=
XM_011524957.1:c.1650_1651delinsGA	XP_011523259.1:p.Gly550=
XM_011524958.1:c.44_45delinsGA	XP_011523260.1:n.44_45delinsGA
XM_011524959.1:c.136_137delinsGA	XP_011523261.1:n.136_137delinsGA
NM_001321268.1:c.44_45delinsGA	NP_001308197.1:n.44_45delinsGA
NM_001321269.1:c.1641_1642delinsGA	NP_001308198.1:p.Gly547=
NM_001330397.1:c.136_137delinsGA	NP_001317326.1:n.136_137delinsGA
XM_005257485.4:c.1212_1213delinsGA	XP_005257542.1:p.Gly404=
XM_006721965.3:c.1032_1033delinsGA	XP_006722028.1:p.Gly344=
XM_011524957.2:c.1650_1651delinsGA	XP_011523259.1:p.Gly550=
XM_011524958.2:c.44_45delinsGA	XP_011523260.1:n.44_45delinsGA
XM_011524959.2:c.136_137delinsGA	XP_011523261.1:n.136_137delinsGA
XM_017024805.1:c.44_45delinsGA	XP_016880294.1:n.44_45delinsGA
XR_002958042.1:n.1652_1653delinsGA
NM_001321268.2:c.44_45delinsGA	NP_001308197.1:n.44_45delinsGA
NM_001321269.2:c.1641_1642delinsGA	NP_001308198.1:p.Gly547=
NM_001330397.2:c.136_137delinsGA	NP_001317326.1:n.136_137delinsGA
NM_017777.4:c.44_45delinsGA MANE Select	NP_060247.2:n.44_45delinsGA