Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.45000375_45000376delinsCG , CM000669.2:g.45000375_45000376delinsCG	GRCh38
NC_000007.13:g.45039974_45039975delinsCG , CM000669.1:g.45039974_45039975delinsCG	GRCh37
NC_000007.12:g.45006499_45006500delinsCG	NCBI36
NG_016295.1:g.5188_5189delinsCG , LRG_664:g.5188_5189delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258781.11:c.30+12_30+13delinsCG MANE Select	ENSP00000258781.7:n.30+12_30+13delinsCG
ENST00000648329.1:c.30+12_30+13delinsCG	ENSP00000496916.1:n.30+12_30+13delinsCG
ENST00000258781.10:c.30+12_30+13delinsCG	ENSP00000258781.6:n.30+12_30+13delinsCG
ENST00000461377.5:n.383+518_383+519delinsCG
ENST00000478582.5:n.175+12_175+13delinsCG
ENST00000488727.5:c.30+12_30+13delinsCG	ENSP00000417251.1:n.30+12_30+13delinsCG
ENST00000541586.5:c.30+12_30+13delinsCG	ENSP00000444725.1:n.30+12_30+13delinsCG
ENST00000544363.5:c.30+12_30+13delinsCG	ENSP00000438035.1:n.30+12_30+13delinsCG
NM_001167934.1:c.30+12_30+13delinsCG	NP_001161406.1:n.30+12_30+13delinsCG
NM_001167935.1:c.30+12_30+13delinsCG	NP_001161407.1:n.30+12_30+13delinsCG
NM_031443.3:c.30+12_30+13delinsCG , LRG_664t2:c.30+12_30+13delinsCG	NP_113631.1:n.30+12_30+13delinsCG
NR_030770.1:n.112+518_112+519delinsCG
XM_011515562.1:c.30+12_30+13delinsCG	XP_011513864.1:n.30+12_30+13delinsCG
XM_011515564.1:c.30+12_30+13delinsCG	XP_011513866.1:n.30+12_30+13delinsCG
NM_001363458.1:c.30+12_30+13delinsCG	NP_001350387.1:n.30+12_30+13delinsCG
NM_001363459.1:c.30+12_30+13delinsCG	NP_001350388.1:n.30+12_30+13delinsCG
XM_017012673.1:c.30+12_30+13delinsCG	XP_016868162.1:n.30+12_30+13delinsCG
NM_001363458.2:c.30+12_30+13delinsCG	NP_001350387.1:n.30+12_30+13delinsCG
NM_001363459.2:c.30+12_30+13delinsCG	NP_001350388.1:n.30+12_30+13delinsCG
NM_031443.4:c.30+12_30+13delinsCG MANE Select	NP_113631.1:n.30+12_30+13delinsCG
NR_030770.2:n.112+518_112+519delinsCG
NM_001167934.2:c.30+12_30+13delinsCG	NP_001161406.1:n.30+12_30+13delinsCG
NM_001167935.2:c.30+12_30+13delinsCG	NP_001161407.1:n.30+12_30+13delinsCG