Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61800980_61800982delinsTTC , CM000679.2:g.61800980_61800982delinsTTC	GRCh38
NC_000017.10:g.59878341_59878343delinsTTC , CM000679.1:g.59878341_59878343delinsTTC	GRCh37
NC_000017.9:g.57233123_57233125delinsTTC	NCBI36
NG_007409.2:g.67578_67580delinsGAA , LRG_300:g.67578_67580delinsGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000579028.2:c.633+271_633+273delinsGAA	ENSP00000463827.2:n.633+271_633+273delinsGAA
ENST00000584322.2:c.1140+271_1140+273delinsGAA	ENSP00000463272.2:n.1140+271_1140+273delinsGAA
ENST00000682066.1:c.633+271_633+273delinsGAA	ENSP00000507191.1:n.633+271_633+273delinsGAA
ENST00000682453.1:c.1140+271_1140+273delinsGAA	ENSP00000506943.1:n.1140+271_1140+273delinsGAA
ENST00000682477.1:c.1140+271_1140+273delinsGAA	ENSP00000507075.1:n.1140+271_1140+273delinsGAA
ENST00000682589.1:n.2881+271_2881+273delinsGAA
ENST00000682611.1:c.633+271_633+273delinsGAA	ENSP00000508326.1:n.633+271_633+273delinsGAA
ENST00000682755.1:c.919-1683_919-1681delinsGAA	ENSP00000507660.1:n.919-1683_919-1681delinsGAA
ENST00000682989.1:c.1140+271_1140+273delinsGAA	ENSP00000507786.1:n.1140+271_1140+273delinsGAA
ENST00000683039.1:c.1140+271_1140+273delinsGAA	ENSP00000508303.1:n.1140+271_1140+273delinsGAA
ENST00000683235.1:c.1140+271_1140+273delinsGAA	ENSP00000507646.1:n.1140+271_1140+273delinsGAA
ENST00000683381.1:c.1140+271_1140+273delinsGAA	ENSP00000508184.1:n.1140+271_1140+273delinsGAA
ENST00000683692.1:c.718+271_718+273delinsGAA	ENSP00000507964.1:n.718+271_718+273delinsGAA
ENST00000684584.1:c.633+271_633+273delinsGAA	ENSP00000508044.1:n.633+271_633+273delinsGAA
ENST00000259008.7:c.1140+271_1140+273delinsGAA MANE Select	ENSP00000259008.2:n.1140+271_1140+273delinsGAA
ENST00000259008.6:c.1140+271_1140+273delinsGAA	ENSP00000259008.2:n.1140+271_1140+273delinsGAA
ENST00000577598.5:c.1140+271_1140+273delinsGAA	ENSP00000464654.1:n.1140+271_1140+273delinsGAA
NM_032043.2:c.1140+271_1140+273delinsGAA , LRG_300t1:c.1140+271_1140+273delinsGAA	NP_114432.2:n.1140+271_1140+273delinsGAA
XM_011525332.1:c.1140+271_1140+273delinsGAA	XP_011523634.1:n.1140+271_1140+273delinsGAA
XM_011525333.1:c.1140+271_1140+273delinsGAA	XP_011523635.1:n.1140+271_1140+273delinsGAA
XM_011525334.1:c.1140+271_1140+273delinsGAA	XP_011523636.1:n.1140+271_1140+273delinsGAA
XM_011525335.1:c.1140+271_1140+273delinsGAA	XP_011523637.1:n.1140+271_1140+273delinsGAA
XM_011525336.1:c.1140+271_1140+273delinsGAA	XP_011523638.1:n.1140+271_1140+273delinsGAA
XM_011525337.1:c.1140+271_1140+273delinsGAA	XP_011523639.1:n.1140+271_1140+273delinsGAA
XM_011525338.1:c.657+271_657+273delinsGAA	XP_011523640.1:n.657+271_657+273delinsGAA
XM_011525339.1:c.1140+271_1140+273delinsGAA	XP_011523641.1:n.1140+271_1140+273delinsGAA
XM_011525340.1:c.1140+271_1140+273delinsGAA	XP_011523642.1:n.1140+271_1140+273delinsGAA
XM_011525341.1:c.1140+271_1140+273delinsGAA	XP_011523643.1:n.1140+271_1140+273delinsGAA
XM_011525332.3:c.1140+271_1140+273delinsGAA	XP_011523634.1:n.1140+271_1140+273delinsGAA
XM_011525333.3:c.1140+271_1140+273delinsGAA	XP_011523635.1:n.1140+271_1140+273delinsGAA
XM_011525334.2:c.1140+271_1140+273delinsGAA	XP_011523636.1:n.1140+271_1140+273delinsGAA
XM_011525335.3:c.1140+271_1140+273delinsGAA	XP_011523637.1:n.1140+271_1140+273delinsGAA
XM_011525336.2:c.1140+271_1140+273delinsGAA	XP_011523638.1:n.1140+271_1140+273delinsGAA
XM_011525337.2:c.1140+271_1140+273delinsGAA	XP_011523639.1:n.1140+271_1140+273delinsGAA
XM_011525338.2:c.657+271_657+273delinsGAA	XP_011523640.1:n.657+271_657+273delinsGAA
XM_011525339.3:c.1140+271_1140+273delinsGAA	XP_011523641.1:n.1140+271_1140+273delinsGAA
XM_011525340.3:c.1140+271_1140+273delinsGAA	XP_011523642.1:n.1140+271_1140+273delinsGAA
XM_011525341.3:c.1140+271_1140+273delinsGAA	XP_011523643.1:n.1140+271_1140+273delinsGAA
XM_017025200.1:c.657+271_657+273delinsGAA	XP_016880689.1:n.657+271_657+273delinsGAA
XM_017025201.1:c.597+271_597+273delinsGAA	XP_016880690.1:n.597+271_597+273delinsGAA
NM_032043.3:c.1140+271_1140+273delinsGAA MANE Select	NP_114432.2:n.1140+271_1140+273delinsGAA