Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942995_77942996insAGAAAAAAAAAAAAAAAA , CM000663.2:g.77942995_77942996insAGAAAAAAAAAAAAAAAA	GRCh38
NC_000001.10:g.78408680_78408681insAGAAAAAAAAAAAAAAAA , CM000663.1:g.78408680_78408681insAGAAAAAAAAAAAAAAAA	GRCh37
NC_000001.9:g.78181268_78181269insAGAAAAAAAAAAAAAAAA	NCBI36
NG_016625.1:g.59481_59482insAGAAAAAAAAAAAAAAAA , LRG_442:g.59481_59482insAGAAAAAAAAAAAAAAAA
NG_033243.2:g.41104_41105insTTTTTTTTTTCTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.166_167insAGAAAAAAAAAAAAAAAA MANE Select	ENSP00000333938.7:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000330010.12:c.166_167insAGAAAAAAAAAAAAAAAA	ENSP00000327363.8:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000334785.11:c.166_167insAGAAAAAAAAAAAAAAAA	ENSP00000333938.7:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000342754.5:c.1812_1813insAGAAAAAAAAAAAAAAAA
ENST00000480732.2:n.1768_1769insAGAAAAAAAAAAAAAAAA
NM_001172309.1:c.166_167insAGAAAAAAAAAAAAAAAA	NP_001165780.1:n.166_167insAGAAAAAAAAAAAAAAAA
NM_144573.3:c.166_167insAGAAAAAAAAAAAAAAAA , LRG_442t1:c.166_167insAGAAAAAAAAAAAAAAAA	NP_653174.3:n.166_167insAGAAAAAAAAAAAAAAAA
XM_005271322.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271379.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271323.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271380.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271324.3:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271381.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271325.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271382.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271326.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271383.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271327.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271384.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271322.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271379.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271323.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271380.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271324.5:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271381.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271325.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271382.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271326.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271383.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271327.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271384.1:n.82_83insAGAAAAAAAAAAAAAAAA
NM_001172309.2:c.166_167insAGAAAAAAAAAAAAAAAA	NP_001165780.1:n.166_167insAGAAAAAAAAAAAAAAAA
NM_144573.4:c.166_167insAGAAAAAAAAAAAAAAAA MANE Select	NP_653174.3:n.166_167insAGAAAAAAAAAAAAAAAA

HGVS	Amino-acid Change
ENST00000334785.12:c.166_167insAGAAAAAAAAAAAAAAAA MANE Select	ENSP00000333938.7:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000330010.12:c.166_167insAGAAAAAAAAAAAAAAAA	ENSP00000327363.8:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000334785.11:c.166_167insAGAAAAAAAAAAAAAAAA	ENSP00000333938.7:n.166_167insAGAAAAAAAAAAAAAAAA
ENST00000342754.5:c.1812_1813insAGAAAAAAAAAAAAAAAA
ENST00000480732.2:n.1768_1769insAGAAAAAAAAAAAAAAAA
NM_001172309.1:c.166_167insAGAAAAAAAAAAAAAAAA	NP_001165780.1:n.166_167insAGAAAAAAAAAAAAAAAA
NM_144573.3:c.166_167insAGAAAAAAAAAAAAAAAA , LRG_442t1:c.166_167insAGAAAAAAAAAAAAAAAA	NP_653174.3:n.166_167insAGAAAAAAAAAAAAAAAA
XM_005271322.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271379.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271323.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271380.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271324.3:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271381.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271325.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271382.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271326.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271383.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271327.2:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271384.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271322.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271379.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271323.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271380.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271324.5:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271381.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271325.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271382.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271326.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271383.1:n.82_83insAGAAAAAAAAAAAAAAAA
XM_005271327.4:c.82_83insAGAAAAAAAAAAAAAAAA	XP_005271384.1:n.82_83insAGAAAAAAAAAAAAAAAA
NM_001172309.2:c.166_167insAGAAAAAAAAAAAAAAAA	NP_001165780.1:n.166_167insAGAAAAAAAAAAAAAAAA
NM_144573.4:c.166_167insAGAAAAAAAAAAAAAAAA MANE Select	NP_653174.3:n.166_167insAGAAAAAAAAAAAAAAAA