Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87958055_87958056insCACACCCAACAC , CM000672.2:g.87958055_87958056insCACACCCAACAC	GRCh38
NC_000010.10:g.89717812_89717813insCACACCCAACAC , CM000672.1:g.89717812_89717813insCACACCCAACAC	GRCh37
NC_000010.9:g.89707792_89707793insCACACCCAACAC	NCBI36
NG_007466.2:g.99617_99618insCACACCCAACAC , LRG_311:g.99617_99618insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.801+36_801+37insCACACCCAACAC	ENSP00000514759.2:n.801+36_801+37insCACACCCAACAC
ENST00000710265.1:c.801+36_801+37insCACACCCAACAC	ENSP00000518161.1:n.801+36_801+37insCACACCCAACAC
ENST00000472832.3:c.801+36_801+37insCACACCCAACAC	ENSP00000483066.2:n.801+36_801+37insCACACCCAACAC
ENST00000688158.2:n.1536+36_1536+37insCACACCCAACAC
ENST00000688922.2:c.631+36_631+37insCACACCCAACAC	ENSP00000508742.2:n.631+36_631+37insCACACCCAACAC
ENST00000700021.1:c.756+36_756+37insCACACCCAACAC	ENSP00000514757.1:n.756+36_756+37insCACACCCAACAC
ENST00000700022.1:c.140+36_140+37insCACACCCAACAC	ENSP00000514758.1:n.140+36_140+37insCACACCCAACAC
ENST00000700023.1:n.1959+36_1959+37insCACACCCAACAC
ENST00000700024.1:n.2193+36_2193+37insCACACCCAACAC
ENST00000700025.1:n.1570+36_1570+37insCACACCCAACAC
ENST00000700026.1:n.438+36_438+37insCACACCCAACAC
ENST00000700029.1:c.635+36_635+37insCACACCCAACAC
ENST00000706954.1:c.801+36_801+37insCACACCCAACAC	ENSP00000516674.1:n.801+36_801+37insCACACCCAACAC
ENST00000706955.1:c.836+36_836+37insCACACCCAACAC	ENSP00000516675.1:n.836+36_836+37insCACACCCAACAC
ENST00000686459.1:c.387+36_387+37insCACACCCAACAC	ENSP00000508909.1:n.387+36_387+37insCACACCCAACAC
ENST00000688158.1:c.912+36_912+37insCACACCCAACAC	ENSP00000509254.1:n.912+36_912+37insCACACCCAACAC
ENST00000688308.1:c.801+36_801+37insCACACCCAACAC	ENSP00000508752.1:n.801+36_801+37insCACACCCAACAC
ENST00000688922.1:c.722+36_722+37insCACACCCAACAC
ENST00000693560.1:c.1320+36_1320+37insCACACCCAACAC	ENSP00000509861.1:n.1320+36_1320+37insCACACCCAACAC
ENST00000371953.8:c.801+36_801+37insCACACCCAACAC MANE Select	ENSP00000361021.3:n.801+36_801+37insCACACCCAACAC
ENST00000371953.7:c.801+36_801+37insCACACCCAACAC	ENSP00000361021.3:n.801+36_801+37insCACACCCAACAC
ENST00000472832.2:c.228+36_228+37insCACACCCAACAC	ENSP00000483066.1:n.228+36_228+37insCACACCCAACAC
NM_000314.5:c.801+36_801+37insCACACCCAACAC	NP_000305.3:n.801+36_801+37insCACACCCAACAC
NM_000314.6:c.801+36_801+37insCACACCCAACAC	NP_000305.3:n.801+36_801+37insCACACCCAACAC
NM_001304717.2:c.1320+36_1320+37insCACACCCAACAC	NP_001291646.2:n.1320+36_1320+37insCACACCCAACAC
NM_001304718.1:c.210+36_210+37insCACACCCAACAC	NP_001291647.1:n.210+36_210+37insCACACCCAACAC
XM_006717926.2:c.756+36_756+37insCACACCCAACAC	XP_006717989.1:n.756+36_756+37insCACACCCAACAC
XM_011539981.1:c.801+36_801+37insCACACCCAACAC	XP_011538283.1:n.801+36_801+37insCACACCCAACAC
XM_011539982.1:c.705+36_705+37insCACACCCAACAC	XP_011538284.1:n.705+36_705+37insCACACCCAACAC
XR_945791.1:n.1371+36_1371+37insCACACCCAACAC
NM_000314.7:c.801+36_801+37insCACACCCAACAC	NP_000305.3:n.801+36_801+37insCACACCCAACAC
NM_001304717.5:c.1320+36_1320+37insCACACCCAACAC	NP_001291646.4:n.1320+36_1320+37insCACACCCAACAC
NM_001304718.2:c.210+36_210+37insCACACCCAACAC	NP_001291647.1:n.210+36_210+37insCACACCCAACAC
NM_000314.8:c.801+36_801+37insCACACCCAACAC MANE Select	NP_000305.3:n.801+36_801+37insCACACCCAACAC