Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87957919_87957920delinsAA , CM000672.2:g.87957919_87957920delinsAA	GRCh38
NC_000010.10:g.89717676_89717677delinsAA , CM000672.1:g.89717676_89717677delinsAA	GRCh37
NC_000010.9:g.89707656_89707657delinsAA	NCBI36
NG_007466.2:g.99481_99482delinsAA , LRG_311:g.99481_99482delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.701_702delinsAA	ENSP00000514759.2:p.Arg234Gln
ENST00000710265.1:c.701_702delinsAA	ENSP00000518161.1:p.Arg234Gln
ENST00000472832.3:c.701_702delinsAA	ENSP00000483066.2:p.Arg234Gln
ENST00000688158.2:n.1436_1437delinsAA
ENST00000688922.2:c.531_532delinsAA	ENSP00000508742.2:n.531_532delinsAA
ENST00000700021.1:c.656_657delinsAA	ENSP00000514757.1:p.Arg219Gln
ENST00000700022.1:c.40_41delinsAA	ENSP00000514758.1:n.40_41delinsAA
ENST00000700023.1:n.1859_1860delinsAA
ENST00000700024.1:n.2093_2094delinsAA
ENST00000700025.1:n.1470_1471delinsAA
ENST00000700026.1:n.338_339delinsAA
ENST00000700029.1:c.535_536delinsAA
ENST00000706954.1:c.701_702delinsAA	ENSP00000516674.1:p.Arg234Gln
ENST00000706955.1:c.736_737delinsAA	ENSP00000516675.1:n.736_737delinsAA
ENST00000686459.1:c.287_288delinsAA	ENSP00000508909.1:n.287_288delinsAA
ENST00000688158.1:c.812_813delinsAA	ENSP00000509254.1:n.812_813delinsAA
ENST00000688308.1:c.701_702delinsAA	ENSP00000508752.1:p.Arg234Gln
ENST00000688922.1:c.622_623delinsAA
ENST00000693560.1:c.1220_1221delinsAA	ENSP00000509861.1:p.Arg407Gln
ENST00000371953.8:c.701_702delinsAA MANE Select	ENSP00000361021.3:p.Arg234Gln
ENST00000371953.7:c.701_702delinsAA	ENSP00000361021.3:p.Arg234Gln
ENST00000472832.2:c.128_129delinsAA	ENSP00000483066.1:p.Arg43Gln
NM_000314.5:c.701_702delinsAA	NP_000305.3:p.Arg234Gln
NM_000314.6:c.701_702delinsAA	NP_000305.3:p.Arg234Gln
NM_001304717.2:c.1220_1221delinsAA	NP_001291646.2:p.Arg407Gln
NM_001304718.1:c.110_111delinsAA	NP_001291647.1:p.Arg37Gln
XM_006717926.2:c.656_657delinsAA	XP_006717989.1:p.Arg219Gln
XM_011539981.1:c.701_702delinsAA	XP_011538283.1:p.Arg234Gln
XM_011539982.1:c.605_606delinsAA	XP_011538284.1:p.Arg202Gln
XR_945791.1:n.1271_1272delinsAA
NM_000314.7:c.701_702delinsAA	NP_000305.3:p.Arg234Gln
NM_001304717.5:c.1220_1221delinsAA	NP_001291646.4:p.Arg407Gln
NM_001304718.2:c.110_111delinsAA	NP_001291647.1:p.Arg37Gln
NM_000314.8:c.701_702delinsAA MANE Select	NP_000305.3:p.Arg234Gln