Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104781497_104781499delinsGAT , CM000671.2:g.104781497_104781499delinsGAT	GRCh38
NC_000009.11:g.107543778_107543780delinsGAT , CM000671.1:g.107543778_107543780delinsGAT	GRCh37
NC_000009.10:g.106583599_106583601delinsGAT	NCBI36
NG_007981.1:g.151657_151659delinsATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2816_2818delinsATC MANE Select	ENSP00000363868.3:n.2816_2818delinsATC
ENST00000678995.1:c.2816_2818delinsATC	ENSP00000504612.1:n.2816_2818delinsATC
ENST00000374736.7:c.2816_2818delinsATC	ENSP00000363868.3:n.2816_2818delinsATC
NM_005502.3:c.2816_2818delinsATC	NP_005493.2:n.2816_2818delinsATC
XM_005251773.1:c.2816_2818delinsATC	XP_005251830.1:n.2816_2818delinsATC
XM_005251776.1:c.2816_2818delinsATC	XP_005251833.1:n.2816_2818delinsATC
XM_011518339.1:c.2816_2818delinsATC	XP_011516641.1:n.2816_2818delinsATC
XM_011518340.1:c.2816_2818delinsATC	XP_011516642.1:n.2816_2818delinsATC
XM_011518341.1:c.2816_2818delinsATC	XP_011516643.1:n.2816_2818delinsATC
XM_011518342.1:c.2816_2818delinsATC	XP_011516644.1:n.2816_2818delinsATC
XM_005251773.3:c.2816_2818delinsATC	XP_005251830.1:n.2816_2818delinsATC
XM_005251776.3:c.2816_2818delinsATC	XP_005251833.1:n.2816_2818delinsATC
XM_011518339.3:c.2816_2818delinsATC	XP_011516641.1:n.2816_2818delinsATC
XM_011518340.3:c.2816_2818delinsATC	XP_011516642.1:n.2816_2818delinsATC
XM_011518341.3:c.2816_2818delinsATC	XP_011516643.1:n.2816_2818delinsATC
XM_011518342.3:c.2816_2818delinsATC	XP_011516644.1:n.2816_2818delinsATC
XM_017014378.2:c.2816_2818delinsATC	XP_016869867.1:n.2816_2818delinsATC
XM_017014379.2:c.2816_2818delinsATC	XP_016869868.1:n.2816_2818delinsATC
XM_017014380.2:c.2816_2818delinsATC	XP_016869869.1:n.2816_2818delinsATC
XM_017014381.2:c.2816_2818delinsATC	XP_016869870.1:n.2816_2818delinsATC
XM_017014382.2:c.2816_2818delinsATC	XP_016869871.1:n.2816_2818delinsATC
NM_005502.4:c.2816_2818delinsATC MANE Select	NP_005493.2:n.2816_2818delinsATC

HGVS	Amino-acid Change
ENST00000374736.8:c.2816_2818delinsATC MANE Select	ENSP00000363868.3:n.2816_2818delinsATC
ENST00000678995.1:c.2816_2818delinsATC	ENSP00000504612.1:n.2816_2818delinsATC
ENST00000374736.7:c.2816_2818delinsATC	ENSP00000363868.3:n.2816_2818delinsATC
NM_005502.3:c.2816_2818delinsATC	NP_005493.2:n.2816_2818delinsATC
XM_005251773.1:c.2816_2818delinsATC	XP_005251830.1:n.2816_2818delinsATC
XM_005251776.1:c.2816_2818delinsATC	XP_005251833.1:n.2816_2818delinsATC
XM_011518339.1:c.2816_2818delinsATC	XP_011516641.1:n.2816_2818delinsATC
XM_011518340.1:c.2816_2818delinsATC	XP_011516642.1:n.2816_2818delinsATC
XM_011518341.1:c.2816_2818delinsATC	XP_011516643.1:n.2816_2818delinsATC
XM_011518342.1:c.2816_2818delinsATC	XP_011516644.1:n.2816_2818delinsATC
XM_005251773.3:c.2816_2818delinsATC	XP_005251830.1:n.2816_2818delinsATC
XM_005251776.3:c.2816_2818delinsATC	XP_005251833.1:n.2816_2818delinsATC
XM_011518339.3:c.2816_2818delinsATC	XP_011516641.1:n.2816_2818delinsATC
XM_011518340.3:c.2816_2818delinsATC	XP_011516642.1:n.2816_2818delinsATC
XM_011518341.3:c.2816_2818delinsATC	XP_011516643.1:n.2816_2818delinsATC
XM_011518342.3:c.2816_2818delinsATC	XP_011516644.1:n.2816_2818delinsATC
XM_017014378.2:c.2816_2818delinsATC	XP_016869867.1:n.2816_2818delinsATC
XM_017014379.2:c.2816_2818delinsATC	XP_016869868.1:n.2816_2818delinsATC
XM_017014380.2:c.2816_2818delinsATC	XP_016869869.1:n.2816_2818delinsATC
XM_017014381.2:c.2816_2818delinsATC	XP_016869870.1:n.2816_2818delinsATC
XM_017014382.2:c.2816_2818delinsATC	XP_016869871.1:n.2816_2818delinsATC
NM_005502.4:c.2816_2818delinsATC MANE Select	NP_005493.2:n.2816_2818delinsATC