Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507238_112507240delinsGAA , CM000674.2:g.112507238_112507240delinsGAA	GRCh38
NC_000012.11:g.112945042_112945044delinsGAA , CM000674.1:g.112945042_112945044delinsGAA	GRCh37
NC_000012.10:g.111429425_111429427delinsGAA	NCBI36
NG_007459.1:g.93507_93509delinsGAA , LRG_614:g.93507_93509delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1389_1391delinsGAA	ENSP00000491593.2:n.1389_1391delinsGAA
ENST00000685487.1:c.2430_2432delinsGAA	ENSP00000508503.1:n.2430_2432delinsGAA
ENST00000687120.1:n.5049_5051delinsGAA
ENST00000687906.1:c.1446_1448delinsGAA	ENSP00000509536.1:n.1446_1448delinsGAA
ENST00000688597.1:c.1446_1448delinsGAA	ENSP00000510628.1:n.1446_1448delinsGAA
ENST00000688701.1:n.2472_2474delinsGAA
ENST00000690210.1:c.1446_1448delinsGAA	ENSP00000509272.1:n.1446_1448delinsGAA
ENST00000690472.1:n.2437_2439delinsGAA
ENST00000692624.1:c.1774_1776delinsGAA	ENSP00000508953.1:n.1774_1776delinsGAA
ENST00000351677.7:c.1446_1448delinsGAA MANE Select	ENSP00000340944.3:n.1446_1448delinsGAA
ENST00000351677.6:c.1446_1448delinsGAA	ENSP00000340944.2:n.1446_1448delinsGAA
NM_002834.3:c.1446_1448delinsGAA , LRG_614t1:c.1446_1448delinsGAA	NP_002825.3:n.1446_1448delinsGAA
XM_006719526.1:c.1446_1448delinsGAA	XP_006719589.1:n.1446_1448delinsGAA
XM_006719527.1:c.1446_1448delinsGAA	XP_006719590.1:n.1446_1448delinsGAA
XM_011538613.1:c.1446_1448delinsGAA	XP_011536915.1:n.1446_1448delinsGAA
NM_001330437.1:c.1446_1448delinsGAA	NP_001317366.1:n.1446_1448delinsGAA
NM_002834.4:c.1446_1448delinsGAA	NP_002825.3:n.1446_1448delinsGAA
XM_011538613.2:c.1446_1448delinsGAA	XP_011536915.1:n.1446_1448delinsGAA
XM_017019722.1:c.1446_1448delinsGAA	XP_016875211.1:n.1446_1448delinsGAA
NM_001330437.2:c.1446_1448delinsGAA	NP_001317366.1:n.1446_1448delinsGAA
NM_001374625.1:c.1446_1448delinsGAA	NP_001361554.1:n.1446_1448delinsGAA
NM_002834.5:c.1446_1448delinsGAA MANE Select	NP_002825.3:n.1446_1448delinsGAA

HGVS	Amino-acid Change
ENST00000639857.2:c.1389_1391delinsGAA	ENSP00000491593.2:n.1389_1391delinsGAA
ENST00000685487.1:c.2430_2432delinsGAA	ENSP00000508503.1:n.2430_2432delinsGAA
ENST00000687120.1:n.5049_5051delinsGAA
ENST00000687906.1:c.1446_1448delinsGAA	ENSP00000509536.1:n.1446_1448delinsGAA
ENST00000688597.1:c.1446_1448delinsGAA	ENSP00000510628.1:n.1446_1448delinsGAA
ENST00000688701.1:n.2472_2474delinsGAA
ENST00000690210.1:c.1446_1448delinsGAA	ENSP00000509272.1:n.1446_1448delinsGAA
ENST00000690472.1:n.2437_2439delinsGAA
ENST00000692624.1:c.1774_1776delinsGAA	ENSP00000508953.1:n.1774_1776delinsGAA
ENST00000351677.7:c.1446_1448delinsGAA MANE Select	ENSP00000340944.3:n.1446_1448delinsGAA
ENST00000351677.6:c.1446_1448delinsGAA	ENSP00000340944.2:n.1446_1448delinsGAA
NM_002834.3:c.1446_1448delinsGAA , LRG_614t1:c.1446_1448delinsGAA	NP_002825.3:n.1446_1448delinsGAA
XM_006719526.1:c.1446_1448delinsGAA	XP_006719589.1:n.1446_1448delinsGAA
XM_006719527.1:c.1446_1448delinsGAA	XP_006719590.1:n.1446_1448delinsGAA
XM_011538613.1:c.1446_1448delinsGAA	XP_011536915.1:n.1446_1448delinsGAA
NM_001330437.1:c.1446_1448delinsGAA	NP_001317366.1:n.1446_1448delinsGAA
NM_002834.4:c.1446_1448delinsGAA	NP_002825.3:n.1446_1448delinsGAA
XM_011538613.2:c.1446_1448delinsGAA	XP_011536915.1:n.1446_1448delinsGAA
XM_017019722.1:c.1446_1448delinsGAA	XP_016875211.1:n.1446_1448delinsGAA
NM_001330437.2:c.1446_1448delinsGAA	NP_001317366.1:n.1446_1448delinsGAA
NM_001374625.1:c.1446_1448delinsGAA	NP_001361554.1:n.1446_1448delinsGAA
NM_002834.5:c.1446_1448delinsGAA MANE Select	NP_002825.3:n.1446_1448delinsGAA