Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668409_3668410delinsAT , CM000682.2:g.3668409_3668410delinsAT	GRCh38
NC_000020.10:g.3649056_3649057delinsAT , CM000682.1:g.3649056_3649057delinsAT	GRCh37
NC_000020.9:g.3597056_3597057delinsAT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356518.7:c.553_554delinsAT MANE Select	ENSP00000348912.3:n.553_554delinsAT
ENST00000350009.6:c.553_554delinsAT	ENSP00000322550.5:n.553_554delinsAT
ENST00000356518.6:c.553_554delinsAT	ENSP00000348912.2:n.553_554delinsAT
ENST00000379861.8:c.553_554delinsAT	ENSP00000369190.4:n.553_554delinsAT
ENST00000466620.5:n.2556_2557delinsAT
ENST00000483362.1:n.1918_1919delinsAT
ENST00000619289.4:c.553_554delinsAT	ENSP00000484600.1:n.553_554delinsAT
NM_001282447.1:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.3:c.553_554delinsAT	NP_079496.1:n.553_554delinsAT
NM_153202.2:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT
XM_005260843.1:c.553_554delinsAT	XP_005260900.1:n.553_554delinsAT
XM_006723639.1:c.553_554delinsAT	XP_006723702.1:n.553_554delinsAT
XM_006723640.1:c.553_554delinsAT	XP_006723703.1:n.553_554delinsAT
XM_011529366.1:c.553_554delinsAT	XP_011527668.1:n.553_554delinsAT
XM_011529367.1:c.553_554delinsAT	XP_011527669.1:n.553_554delinsAT
XM_011529368.1:c.553_554delinsAT	XP_011527670.1:n.553_554delinsAT
XM_011529373.1:c.553_554delinsAT	XP_011527675.1:n.553_554delinsAT
XR_937153.1:n.3016_3017delinsAT
XR_937154.1:n.3016_3017delinsAT
XR_937155.1:n.2937_2938delinsAT
XR_937157.1:n.2939_2940delinsAT
NM_001282447.2:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.4:c.553_554delinsAT	NP_079496.1:n.553_554delinsAT
NM_153202.3:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT
XM_011529373.2:c.553_554delinsAT	XP_011527675.1:n.553_554delinsAT
XR_001754405.1:n.3103_3104delinsAT
XR_002958534.1:n.3212_3213delinsAT
NM_001282447.3:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.5:c.553_554delinsAT MANE Select	NP_079496.1:n.553_554delinsAT
NM_153202.4:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT

HGVS	Amino-acid Change
ENST00000356518.7:c.553_554delinsAT MANE Select	ENSP00000348912.3:n.553_554delinsAT
ENST00000350009.6:c.553_554delinsAT	ENSP00000322550.5:n.553_554delinsAT
ENST00000356518.6:c.553_554delinsAT	ENSP00000348912.2:n.553_554delinsAT
ENST00000379861.8:c.553_554delinsAT	ENSP00000369190.4:n.553_554delinsAT
ENST00000466620.5:n.2556_2557delinsAT
ENST00000483362.1:n.1918_1919delinsAT
ENST00000619289.4:c.553_554delinsAT	ENSP00000484600.1:n.553_554delinsAT
NM_001282447.1:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.3:c.553_554delinsAT	NP_079496.1:n.553_554delinsAT
NM_153202.2:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT
XM_005260843.1:c.553_554delinsAT	XP_005260900.1:n.553_554delinsAT
XM_006723639.1:c.553_554delinsAT	XP_006723702.1:n.553_554delinsAT
XM_006723640.1:c.553_554delinsAT	XP_006723703.1:n.553_554delinsAT
XM_011529366.1:c.553_554delinsAT	XP_011527668.1:n.553_554delinsAT
XM_011529367.1:c.553_554delinsAT	XP_011527669.1:n.553_554delinsAT
XM_011529368.1:c.553_554delinsAT	XP_011527670.1:n.553_554delinsAT
XM_011529373.1:c.553_554delinsAT	XP_011527675.1:n.553_554delinsAT
XR_937153.1:n.3016_3017delinsAT
XR_937154.1:n.3016_3017delinsAT
XR_937155.1:n.2937_2938delinsAT
XR_937157.1:n.2939_2940delinsAT
NM_001282447.2:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.4:c.553_554delinsAT	NP_079496.1:n.553_554delinsAT
NM_153202.3:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT
XM_011529373.2:c.553_554delinsAT	XP_011527675.1:n.553_554delinsAT
XR_001754405.1:n.3103_3104delinsAT
XR_002958534.1:n.3212_3213delinsAT
NM_001282447.3:c.553_554delinsAT	NP_001269376.1:n.553_554delinsAT
NM_025220.5:c.553_554delinsAT MANE Select	NP_079496.1:n.553_554delinsAT
NM_153202.4:c.553_554delinsAT	NP_694882.1:n.553_554delinsAT