Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951537_150951546delinsAAGGTGAAGT , CM000669.2:g.150951537_150951546delinsAAGGTGAAGT	GRCh38
NC_000007.13:g.150648625_150648634delinsAAGGTGAAGT , CM000669.1:g.150648625_150648634delinsAAGGTGAAGT	GRCh37
NC_000007.12:g.150279558_150279567delinsAAGGTGAAGT	NCBI36
NG_008916.1:g.31381_31390delinsACTTCACCTT , LRG_288:g.31381_31390delinsACTTCACCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1145_1154delinsACTTCACCTT
ENST00000684241.1:n.2680_2689delinsACTTCACCTT
ENST00000262186.10:c.1847_1856delinsACTTCACCTT MANE Select	ENSP00000262186.5:p.Tyr616=
ENST00000330883.9:c.827_836delinsACTTCACCTT	ENSP00000328531.4:p.Tyr276=
ENST00000262186.9:c.1847_1856delinsACTTCACCTT	ENSP00000262186.5:p.Tyr616=
ENST00000330883.8:c.827_836delinsACTTCACCTT	ENSP00000328531.4:p.Tyr276=
ENST00000430723.4:c.1499_1508delinsACTTCACCTT	ENSP00000387657.4:p.Tyr500=
ENST00000461280.1:n.1134_1143delinsACTTCACCTT
ENST00000473610.5:n.1152_1161delinsACTTCACCTT
ENST00000532957.5:n.2070_2079delinsACTTCACCTT
NM_000238.3:c.1847_1856delinsACTTCACCTT , LRG_288t1:c.1847_1856delinsACTTCACCTT	NP_000229.1:p.Tyr616=
NM_001204798.1:c.827_836delinsACTTCACCTT	NP_001191727.1:p.Tyr276=
NM_172056.2:c.1847_1856delinsACTTCACCTT , LRG_288t2:c.1847_1856delinsACTTCACCTT	NP_742053.1:p.Tyr616=
NM_172057.2:c.827_836delinsACTTCACCTT , LRG_288t3:c.827_836delinsACTTCACCTT	NP_742054.1:p.Tyr276=
XM_011516185.1:c.1547_1556delinsACTTCACCTT	XP_011514487.1:p.Tyr516=
XM_011516186.1:c.1847_1856delinsACTTCACCTT	XP_011514488.1:p.Tyr616=
XM_011516185.2:c.1547_1556delinsACTTCACCTT	XP_011514487.1:p.Tyr516=
XM_011516186.3:c.1847_1856delinsACTTCACCTT	XP_011514488.1:p.Tyr616=
XM_017012195.1:c.1697_1706delinsACTTCACCTT	XP_016867684.1:p.Tyr566=
XM_017012196.1:c.1670_1679delinsACTTCACCTT	XP_016867685.1:p.Tyr557=
NM_000238.4:c.1847_1856delinsACTTCACCTT MANE Select	NP_000229.1:p.Tyr616=
NM_001204798.2:c.827_836delinsACTTCACCTT	NP_001191727.1:p.Tyr276=
NM_172057.3:c.827_836delinsACTTCACCTT	NP_742054.1:p.Tyr276=