Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668342_3668343delinsCG , CM000682.2:g.3668342_3668343delinsCG	GRCh38
NC_000020.10:g.3648989_3648990delinsCG , CM000682.1:g.3648989_3648990delinsCG	GRCh37
NC_000020.9:g.3596989_3596990delinsCG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.620_621delinsCG MANE Select	ENSP00000348912.3:n.620_621delinsCG
ENST00000350009.6:c.620_621delinsCG	ENSP00000322550.5:n.620_621delinsCG
ENST00000356518.6:c.620_621delinsCG	ENSP00000348912.2:n.620_621delinsCG
ENST00000379861.8:c.620_621delinsCG	ENSP00000369190.4:n.620_621delinsCG
ENST00000466620.5:n.2623_2624delinsCG
ENST00000483362.1:n.1985_1986delinsCG
ENST00000619289.4:c.620_621delinsCG	ENSP00000484600.1:n.620_621delinsCG
NM_001282447.1:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.3:c.620_621delinsCG	NP_079496.1:n.620_621delinsCG
NM_153202.2:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG
XM_005260843.1:c.620_621delinsCG	XP_005260900.1:n.620_621delinsCG
XM_006723639.1:c.620_621delinsCG	XP_006723702.1:n.620_621delinsCG
XM_006723640.1:c.620_621delinsCG	XP_006723703.1:n.620_621delinsCG
XM_011529366.1:c.620_621delinsCG	XP_011527668.1:n.620_621delinsCG
XM_011529367.1:c.620_621delinsCG	XP_011527669.1:n.620_621delinsCG
XM_011529368.1:c.620_621delinsCG	XP_011527670.1:n.620_621delinsCG
XM_011529373.1:c.620_621delinsCG	XP_011527675.1:n.620_621delinsCG
XR_937153.1:n.3083_3084delinsCG
XR_937154.1:n.3083_3084delinsCG
XR_937155.1:n.3004_3005delinsCG
XR_937157.1:n.3006_3007delinsCG
NM_001282447.2:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.4:c.620_621delinsCG	NP_079496.1:n.620_621delinsCG
NM_153202.3:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG
XM_011529373.2:c.620_621delinsCG	XP_011527675.1:n.620_621delinsCG
XR_001754405.1:n.3170_3171delinsCG
XR_002958534.1:n.3279_3280delinsCG
NM_001282447.3:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.5:c.620_621delinsCG MANE Select	NP_079496.1:n.620_621delinsCG
NM_153202.4:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG

HGVS	Amino-acid Change
ENST00000356518.7:c.620_621delinsCG MANE Select	ENSP00000348912.3:n.620_621delinsCG
ENST00000350009.6:c.620_621delinsCG	ENSP00000322550.5:n.620_621delinsCG
ENST00000356518.6:c.620_621delinsCG	ENSP00000348912.2:n.620_621delinsCG
ENST00000379861.8:c.620_621delinsCG	ENSP00000369190.4:n.620_621delinsCG
ENST00000466620.5:n.2623_2624delinsCG
ENST00000483362.1:n.1985_1986delinsCG
ENST00000619289.4:c.620_621delinsCG	ENSP00000484600.1:n.620_621delinsCG
NM_001282447.1:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.3:c.620_621delinsCG	NP_079496.1:n.620_621delinsCG
NM_153202.2:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG
XM_005260843.1:c.620_621delinsCG	XP_005260900.1:n.620_621delinsCG
XM_006723639.1:c.620_621delinsCG	XP_006723702.1:n.620_621delinsCG
XM_006723640.1:c.620_621delinsCG	XP_006723703.1:n.620_621delinsCG
XM_011529366.1:c.620_621delinsCG	XP_011527668.1:n.620_621delinsCG
XM_011529367.1:c.620_621delinsCG	XP_011527669.1:n.620_621delinsCG
XM_011529368.1:c.620_621delinsCG	XP_011527670.1:n.620_621delinsCG
XM_011529373.1:c.620_621delinsCG	XP_011527675.1:n.620_621delinsCG
XR_937153.1:n.3083_3084delinsCG
XR_937154.1:n.3083_3084delinsCG
XR_937155.1:n.3004_3005delinsCG
XR_937157.1:n.3006_3007delinsCG
NM_001282447.2:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.4:c.620_621delinsCG	NP_079496.1:n.620_621delinsCG
NM_153202.3:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG
XM_011529373.2:c.620_621delinsCG	XP_011527675.1:n.620_621delinsCG
XR_001754405.1:n.3170_3171delinsCG
XR_002958534.1:n.3279_3280delinsCG
NM_001282447.3:c.620_621delinsCG	NP_001269376.1:n.620_621delinsCG
NM_025220.5:c.620_621delinsCG MANE Select	NP_079496.1:n.620_621delinsCG
NM_153202.4:c.620_621delinsCG	NP_694882.1:n.620_621delinsCG