Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933603_77933604insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT , CM000663.2:g.77933603_77933604insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	GRCh38
NC_000001.10:g.78399288_78399289insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT , CM000663.1:g.78399288_78399289insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	GRCh37
NC_000001.9:g.78171876_78171877insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	NCBI36
NG_016625.1:g.50089_50090insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT , LRG_442:g.50089_50090insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT MANE Select	ENSP00000333938.7:n.1251+124_1251+125insATATAAGTAAAATATTTACCT...
ENST00000330010.12:c.1059+124_1059+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	ENSP00000327363.8:n.1059+124_1059+125insATATAAGTAAAATATTTACCT...
ENST00000334785.11:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	ENSP00000333938.7:n.1251+124_1251+125insATATAAGTAAAATATTTACCT...
ENST00000342754.5:c.950+124_950+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT
ENST00000440324.5:c.1209+124_1209+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	ENSP00000411902.1:n.1209+124_1209+125insATATAAGTAAAATATTTACCT...
ENST00000464998.1:n.711+124_711+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT
ENST00000480732.2:n.825+124_825+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT
NM_001172309.1:c.1059+124_1059+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	NP_001165780.1:n.1059+124_1059+125insATATAAGTAAAATATTTACCTTAA...
NM_144573.3:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT , LRG_442t1:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	NP_653174.3:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAA...
XM_005271322.2:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271379.1:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAA...
XM_005271323.2:c.1209+124_1209+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271380.1:n.1209+124_1209+125insATATAAGTAAAATATTTACCTTAA...
XM_005271324.3:c.1059+124_1059+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271381.1:n.1059+124_1059+125insATATAAGTAAAATATTTACCTTAA...
XM_005271325.2:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271382.1:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAA...
XM_005271326.2:c.1017+124_1017+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271383.1:n.1017+124_1017+125insATATAAGTAAAATATTTACCTTAA...
XM_005271327.2:c.834+124_834+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271384.1:n.834+124_834+125insATATAAGTAAAATATTTACCTTAATA...
XM_005271322.4:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271379.1:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAA...
XM_005271323.4:c.1209+124_1209+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271380.1:n.1209+124_1209+125insATATAAGTAAAATATTTACCTTAA...
XM_005271324.5:c.1059+124_1059+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271381.1:n.1059+124_1059+125insATATAAGTAAAATATTTACCTTAA...
XM_005271325.4:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271382.1:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAA...
XM_005271326.4:c.1017+124_1017+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271383.1:n.1017+124_1017+125insATATAAGTAAAATATTTACCTTAA...
XM_005271327.4:c.834+124_834+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	XP_005271384.1:n.834+124_834+125insATATAAGTAAAATATTTACCTTAATA...
NM_001172309.2:c.1059+124_1059+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT	NP_001165780.1:n.1059+124_1059+125insATATAAGTAAAATATTTACCTTAA...
NM_144573.4:c.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAAATATGGGGAATATAGATATTTCTTAAAATCTTACCT MANE Select	NP_653174.3:n.1251+124_1251+125insATATAAGTAAAATATTTACCTTAATAA...