Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77933500_77933501insG , CM000663.2:g.77933500_77933501insG	GRCh38
NC_000001.10:g.78399185_78399186insG , CM000663.1:g.78399185_78399186insG	GRCh37
NC_000001.9:g.78171773_78171774insG	NCBI36
NG_016625.1:g.49986_49987insG , LRG_442:g.49986_49987insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.1251+21_1251+22insG MANE Select	ENSP00000333938.7:n.1251+21_1251+22insG
ENST00000330010.12:c.1059+21_1059+22insG	ENSP00000327363.8:n.1059+21_1059+22insG
ENST00000334785.11:c.1251+21_1251+22insG	ENSP00000333938.7:n.1251+21_1251+22insG
ENST00000342754.5:c.950+21_950+22insG
ENST00000440324.5:c.1209+21_1209+22insG	ENSP00000411902.1:n.1209+21_1209+22insG
ENST00000464998.1:n.711+21_711+22insG
ENST00000480732.2:n.825+21_825+22insG
NM_001172309.1:c.1059+21_1059+22insG	NP_001165780.1:n.1059+21_1059+22insG
NM_144573.3:c.1251+21_1251+22insG , LRG_442t1:c.1251+21_1251+22insG	NP_653174.3:n.1251+21_1251+22insG
XM_005271322.2:c.1251+21_1251+22insG	XP_005271379.1:n.1251+21_1251+22insG
XM_005271323.2:c.1209+21_1209+22insG	XP_005271380.1:n.1209+21_1209+22insG
XM_005271324.3:c.1059+21_1059+22insG	XP_005271381.1:n.1059+21_1059+22insG
XM_005271325.2:c.1251+21_1251+22insG	XP_005271382.1:n.1251+21_1251+22insG
XM_005271326.2:c.1017+21_1017+22insG	XP_005271383.1:n.1017+21_1017+22insG
XM_005271327.2:c.834+21_834+22insG	XP_005271384.1:n.834+21_834+22insG
XM_005271322.4:c.1251+21_1251+22insG	XP_005271379.1:n.1251+21_1251+22insG
XM_005271323.4:c.1209+21_1209+22insG	XP_005271380.1:n.1209+21_1209+22insG
XM_005271324.5:c.1059+21_1059+22insG	XP_005271381.1:n.1059+21_1059+22insG
XM_005271325.4:c.1251+21_1251+22insG	XP_005271382.1:n.1251+21_1251+22insG
XM_005271326.4:c.1017+21_1017+22insG	XP_005271383.1:n.1017+21_1017+22insG
XM_005271327.4:c.834+21_834+22insG	XP_005271384.1:n.834+21_834+22insG
NM_001172309.2:c.1059+21_1059+22insG	NP_001165780.1:n.1059+21_1059+22insG
NM_144573.4:c.1251+21_1251+22insG MANE Select	NP_653174.3:n.1251+21_1251+22insG