Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668459_3668460delinsGA , CM000682.2:g.3668459_3668460delinsGA	GRCh38
NC_000020.10:g.3649106_3649107delinsGA , CM000682.1:g.3649106_3649107delinsGA	GRCh37
NC_000020.9:g.3597106_3597107delinsGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.503_504delinsTC MANE Select	ENSP00000348912.3:n.503_504delinsTC
ENST00000350009.6:c.503_504delinsTC	ENSP00000322550.5:n.503_504delinsTC
ENST00000356518.6:c.503_504delinsTC	ENSP00000348912.2:n.503_504delinsTC
ENST00000379861.8:c.503_504delinsTC	ENSP00000369190.4:n.503_504delinsTC
ENST00000466620.5:n.2506_2507delinsTC
ENST00000483362.1:n.1868_1869delinsTC
ENST00000619289.4:c.503_504delinsTC	ENSP00000484600.1:n.503_504delinsTC
NM_001282447.1:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.3:c.503_504delinsTC	NP_079496.1:n.503_504delinsTC
NM_153202.2:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC
XM_005260843.1:c.503_504delinsTC	XP_005260900.1:n.503_504delinsTC
XM_006723639.1:c.503_504delinsTC	XP_006723702.1:n.503_504delinsTC
XM_006723640.1:c.503_504delinsTC	XP_006723703.1:n.503_504delinsTC
XM_011529366.1:c.503_504delinsTC	XP_011527668.1:n.503_504delinsTC
XM_011529367.1:c.503_504delinsTC	XP_011527669.1:n.503_504delinsTC
XM_011529368.1:c.503_504delinsTC	XP_011527670.1:n.503_504delinsTC
XM_011529373.1:c.503_504delinsTC	XP_011527675.1:n.503_504delinsTC
XR_937153.1:n.2966_2967delinsTC
XR_937154.1:n.2966_2967delinsTC
XR_937155.1:n.2887_2888delinsTC
XR_937157.1:n.2889_2890delinsTC
NM_001282447.2:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.4:c.503_504delinsTC	NP_079496.1:n.503_504delinsTC
NM_153202.3:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC
XM_011529373.2:c.503_504delinsTC	XP_011527675.1:n.503_504delinsTC
XR_001754405.1:n.3053_3054delinsTC
XR_002958534.1:n.3162_3163delinsTC
NM_001282447.3:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.5:c.503_504delinsTC MANE Select	NP_079496.1:n.503_504delinsTC
NM_153202.4:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC

HGVS	Amino-acid change
ENST00000356518.7:c.503_504delinsTC MANE Select	ENSP00000348912.3:n.503_504delinsTC
ENST00000350009.6:c.503_504delinsTC	ENSP00000322550.5:n.503_504delinsTC
ENST00000356518.6:c.503_504delinsTC	ENSP00000348912.2:n.503_504delinsTC
ENST00000379861.8:c.503_504delinsTC	ENSP00000369190.4:n.503_504delinsTC
ENST00000466620.5:n.2506_2507delinsTC
ENST00000483362.1:n.1868_1869delinsTC
ENST00000619289.4:c.503_504delinsTC	ENSP00000484600.1:n.503_504delinsTC
NM_001282447.1:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.3:c.503_504delinsTC	NP_079496.1:n.503_504delinsTC
NM_153202.2:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC
XM_005260843.1:c.503_504delinsTC	XP_005260900.1:n.503_504delinsTC
XM_006723639.1:c.503_504delinsTC	XP_006723702.1:n.503_504delinsTC
XM_006723640.1:c.503_504delinsTC	XP_006723703.1:n.503_504delinsTC
XM_011529366.1:c.503_504delinsTC	XP_011527668.1:n.503_504delinsTC
XM_011529367.1:c.503_504delinsTC	XP_011527669.1:n.503_504delinsTC
XM_011529368.1:c.503_504delinsTC	XP_011527670.1:n.503_504delinsTC
XM_011529373.1:c.503_504delinsTC	XP_011527675.1:n.503_504delinsTC
XR_937153.1:n.2966_2967delinsTC
XR_937154.1:n.2966_2967delinsTC
XR_937155.1:n.2887_2888delinsTC
XR_937157.1:n.2889_2890delinsTC
NM_001282447.2:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.4:c.503_504delinsTC	NP_079496.1:n.503_504delinsTC
NM_153202.3:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC
XM_011529373.2:c.503_504delinsTC	XP_011527675.1:n.503_504delinsTC
XR_001754405.1:n.3053_3054delinsTC
XR_002958534.1:n.3162_3163delinsTC
NM_001282447.3:c.503_504delinsTC	NP_001269376.1:n.503_504delinsTC
NM_025220.5:c.503_504delinsTC MANE Select	NP_079496.1:n.503_504delinsTC
NM_153202.4:c.503_504delinsTC	NP_694882.1:n.503_504delinsTC