Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668448_3668450delinsCAG , CM000682.2:g.3668448_3668450delinsCAG	GRCh38
NC_000020.10:g.3649095_3649097delinsCAG , CM000682.1:g.3649095_3649097delinsCAG	GRCh37
NC_000020.9:g.3597095_3597097delinsCAG	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.513_515delinsCTG MANE Select	ENSP00000348912.3:n.513_515delinsCTG
ENST00000350009.6:c.513_515delinsCTG	ENSP00000322550.5:n.513_515delinsCTG
ENST00000356518.6:c.513_515delinsCTG	ENSP00000348912.2:n.513_515delinsCTG
ENST00000379861.8:c.513_515delinsCTG	ENSP00000369190.4:n.513_515delinsCTG
ENST00000466620.5:n.2516_2518delinsCTG
ENST00000483362.1:n.1878_1880delinsCTG
ENST00000619289.4:c.513_515delinsCTG	ENSP00000484600.1:n.513_515delinsCTG
NM_001282447.1:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.3:c.513_515delinsCTG	NP_079496.1:n.513_515delinsCTG
NM_153202.2:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG
XM_005260843.1:c.513_515delinsCTG	XP_005260900.1:n.513_515delinsCTG
XM_006723639.1:c.513_515delinsCTG	XP_006723702.1:n.513_515delinsCTG
XM_006723640.1:c.513_515delinsCTG	XP_006723703.1:n.513_515delinsCTG
XM_011529366.1:c.513_515delinsCTG	XP_011527668.1:n.513_515delinsCTG
XM_011529367.1:c.513_515delinsCTG	XP_011527669.1:n.513_515delinsCTG
XM_011529368.1:c.513_515delinsCTG	XP_011527670.1:n.513_515delinsCTG
XM_011529373.1:c.513_515delinsCTG	XP_011527675.1:n.513_515delinsCTG
XR_937153.1:n.2976_2978delinsCTG
XR_937154.1:n.2976_2978delinsCTG
XR_937155.1:n.2897_2899delinsCTG
XR_937157.1:n.2899_2901delinsCTG
NM_001282447.2:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.4:c.513_515delinsCTG	NP_079496.1:n.513_515delinsCTG
NM_153202.3:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG
XM_011529373.2:c.513_515delinsCTG	XP_011527675.1:n.513_515delinsCTG
XR_001754405.1:n.3063_3065delinsCTG
XR_002958534.1:n.3172_3174delinsCTG
NM_001282447.3:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.5:c.513_515delinsCTG MANE Select	NP_079496.1:n.513_515delinsCTG
NM_153202.4:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG

HGVS	Amino-acid change
ENST00000356518.7:c.513_515delinsCTG MANE Select	ENSP00000348912.3:n.513_515delinsCTG
ENST00000350009.6:c.513_515delinsCTG	ENSP00000322550.5:n.513_515delinsCTG
ENST00000356518.6:c.513_515delinsCTG	ENSP00000348912.2:n.513_515delinsCTG
ENST00000379861.8:c.513_515delinsCTG	ENSP00000369190.4:n.513_515delinsCTG
ENST00000466620.5:n.2516_2518delinsCTG
ENST00000483362.1:n.1878_1880delinsCTG
ENST00000619289.4:c.513_515delinsCTG	ENSP00000484600.1:n.513_515delinsCTG
NM_001282447.1:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.3:c.513_515delinsCTG	NP_079496.1:n.513_515delinsCTG
NM_153202.2:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG
XM_005260843.1:c.513_515delinsCTG	XP_005260900.1:n.513_515delinsCTG
XM_006723639.1:c.513_515delinsCTG	XP_006723702.1:n.513_515delinsCTG
XM_006723640.1:c.513_515delinsCTG	XP_006723703.1:n.513_515delinsCTG
XM_011529366.1:c.513_515delinsCTG	XP_011527668.1:n.513_515delinsCTG
XM_011529367.1:c.513_515delinsCTG	XP_011527669.1:n.513_515delinsCTG
XM_011529368.1:c.513_515delinsCTG	XP_011527670.1:n.513_515delinsCTG
XM_011529373.1:c.513_515delinsCTG	XP_011527675.1:n.513_515delinsCTG
XR_937153.1:n.2976_2978delinsCTG
XR_937154.1:n.2976_2978delinsCTG
XR_937155.1:n.2897_2899delinsCTG
XR_937157.1:n.2899_2901delinsCTG
NM_001282447.2:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.4:c.513_515delinsCTG	NP_079496.1:n.513_515delinsCTG
NM_153202.3:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG
XM_011529373.2:c.513_515delinsCTG	XP_011527675.1:n.513_515delinsCTG
XR_001754405.1:n.3063_3065delinsCTG
XR_002958534.1:n.3172_3174delinsCTG
NM_001282447.3:c.513_515delinsCTG	NP_001269376.1:n.513_515delinsCTG
NM_025220.5:c.513_515delinsCTG MANE Select	NP_079496.1:n.513_515delinsCTG
NM_153202.4:c.513_515delinsCTG	NP_694882.1:n.513_515delinsCTG