Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319025_32319026delinsCA , CM000675.2:g.32319025_32319026delinsCA	GRCh38
NC_000013.10:g.32893162_32893163delinsCA , CM000675.1:g.32893162_32893163delinsCA	GRCh37
NC_000013.9:g.31791162_31791163delinsCA	NCBI36
NG_012772.3:g.8546_8547delinsCA , LRG_293:g.8546_8547delinsCA
NG_017006.2:g.1338_1339delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.68-52_68-51delinsCA	ENSP00000434898.2:n.68-52_68-51delinsCA
ENST00000528762.2:c.68-52_68-51delinsCA	ENSP00000433168.2:n.68-52_68-51delinsCA
ENST00000530893.7:c.-302-52_-302-51delinsCA	ENSP00000499438.2:n.-302-52_-302-51delinsCA
ENST00000665585.2:c.68-52_68-51delinsCA	ENSP00000499570.2:n.68-52_68-51delinsCA
ENST00000666593.2:c.68-52_68-51delinsCA	ENSP00000499256.2:n.68-52_68-51delinsCA
ENST00000700202.2:c.68-52_68-51delinsCA	ENSP00000514856.2:n.68-52_68-51delinsCA
ENST00000700200.1:n.191+2498_191+2499delinsCA
ENST00000700201.1:c.68-52_68-51delinsCA	ENSP00000514855.1:n.68-52_68-51delinsCA
ENST00000380152.8:c.68-52_68-51delinsCA MANE Select	ENSP00000369497.3:n.68-52_68-51delinsCA
ENST00000544455.6:c.68-52_68-51delinsCA	ENSP00000439902.1:n.68-52_68-51delinsCA
ENST00000614259.2:c.68-52_68-51delinsCA	ENSP00000506251.1:n.68-52_68-51delinsCA
ENST00000680887.1:c.68-52_68-51delinsCA	ENSP00000505508.1:n.68-52_68-51delinsCA
ENST00000380152.7:c.68-52_68-51delinsCA	ENSP00000369497.3:n.68-52_68-51delinsCA
ENST00000530893.6:n.266-52_266-51delinsCA
ENST00000544455.5:c.68-52_68-51delinsCA	ENSP00000439902.1:n.68-52_68-51delinsCA
ENST00000614259.1:n.68-52_68-51delinsCA
NM_000059.3:c.68-52_68-51delinsCA , LRG_293t1:c.68-52_68-51delinsCA	NP_000050.2:n.68-52_68-51delinsCA
XM_011535203.1:c.68-52_68-51delinsCA	XP_011533505.1:n.68-52_68-51delinsCA
XM_011535204.1:c.68-52_68-51delinsCA	XP_011533506.1:n.68-52_68-51delinsCA
XM_011535205.1:c.68-52_68-51delinsCA	XP_011533507.1:n.68-52_68-51delinsCA
NM_000059.4:c.68-52_68-51delinsCA MANE Select	NP_000050.3:n.68-52_68-51delinsCA