Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668693_3668694delinsCA , CM000682.2:g.3668693_3668694delinsCA	GRCh38
NC_000020.10:g.3649340_3649341delinsCA , CM000682.1:g.3649340_3649341delinsCA	GRCh37
NC_000020.9:g.3597340_3597341delinsCA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.269_270delinsTG MANE Select	ENSP00000348912.3:n.269_270delinsTG
ENST00000350009.6:c.269_270delinsTG	ENSP00000322550.5:n.269_270delinsTG
ENST00000356518.6:c.269_270delinsTG	ENSP00000348912.2:n.269_270delinsTG
ENST00000379861.8:c.269_270delinsTG	ENSP00000369190.4:n.269_270delinsTG
ENST00000466620.5:n.2272_2273delinsTG
ENST00000483362.1:n.1634_1635delinsTG
ENST00000617732.1:c.1395_1396delinsTG	ENSP00000483343.1:n.1395_1396delinsTG
ENST00000619289.4:c.269_270delinsTG	ENSP00000484600.1:n.269_270delinsTG
NM_001282447.1:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.3:c.269_270delinsTG	NP_079496.1:n.269_270delinsTG
NM_153202.2:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG
XM_005260843.1:c.269_270delinsTG	XP_005260900.1:n.269_270delinsTG
XM_006723639.1:c.269_270delinsTG	XP_006723702.1:n.269_270delinsTG
XM_006723640.1:c.269_270delinsTG	XP_006723703.1:n.269_270delinsTG
XM_011529366.1:c.269_270delinsTG	XP_011527668.1:n.269_270delinsTG
XM_011529367.1:c.269_270delinsTG	XP_011527669.1:n.269_270delinsTG
XM_011529368.1:c.269_270delinsTG	XP_011527670.1:n.269_270delinsTG
XM_011529373.1:c.269_270delinsTG	XP_011527675.1:n.269_270delinsTG
XR_937153.1:n.2732_2733delinsTG
XR_937154.1:n.2732_2733delinsTG
XR_937155.1:n.2653_2654delinsTG
XR_937157.1:n.2655_2656delinsTG
NM_001282447.2:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.4:c.269_270delinsTG	NP_079496.1:n.269_270delinsTG
NM_153202.3:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG
XM_011529373.2:c.269_270delinsTG	XP_011527675.1:n.269_270delinsTG
XR_001754405.1:n.2819_2820delinsTG
XR_002958534.1:n.2928_2929delinsTG
NM_001282447.3:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.5:c.269_270delinsTG MANE Select	NP_079496.1:n.269_270delinsTG
NM_153202.4:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG

HGVS	Amino-acid change
ENST00000356518.7:c.269_270delinsTG MANE Select	ENSP00000348912.3:n.269_270delinsTG
ENST00000350009.6:c.269_270delinsTG	ENSP00000322550.5:n.269_270delinsTG
ENST00000356518.6:c.269_270delinsTG	ENSP00000348912.2:n.269_270delinsTG
ENST00000379861.8:c.269_270delinsTG	ENSP00000369190.4:n.269_270delinsTG
ENST00000466620.5:n.2272_2273delinsTG
ENST00000483362.1:n.1634_1635delinsTG
ENST00000617732.1:c.1395_1396delinsTG	ENSP00000483343.1:n.1395_1396delinsTG
ENST00000619289.4:c.269_270delinsTG	ENSP00000484600.1:n.269_270delinsTG
NM_001282447.1:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.3:c.269_270delinsTG	NP_079496.1:n.269_270delinsTG
NM_153202.2:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG
XM_005260843.1:c.269_270delinsTG	XP_005260900.1:n.269_270delinsTG
XM_006723639.1:c.269_270delinsTG	XP_006723702.1:n.269_270delinsTG
XM_006723640.1:c.269_270delinsTG	XP_006723703.1:n.269_270delinsTG
XM_011529366.1:c.269_270delinsTG	XP_011527668.1:n.269_270delinsTG
XM_011529367.1:c.269_270delinsTG	XP_011527669.1:n.269_270delinsTG
XM_011529368.1:c.269_270delinsTG	XP_011527670.1:n.269_270delinsTG
XM_011529373.1:c.269_270delinsTG	XP_011527675.1:n.269_270delinsTG
XR_937153.1:n.2732_2733delinsTG
XR_937154.1:n.2732_2733delinsTG
XR_937155.1:n.2653_2654delinsTG
XR_937157.1:n.2655_2656delinsTG
NM_001282447.2:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.4:c.269_270delinsTG	NP_079496.1:n.269_270delinsTG
NM_153202.3:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG
XM_011529373.2:c.269_270delinsTG	XP_011527675.1:n.269_270delinsTG
XR_001754405.1:n.2819_2820delinsTG
XR_002958534.1:n.2928_2929delinsTG
NM_001282447.3:c.269_270delinsTG	NP_001269376.1:n.269_270delinsTG
NM_025220.5:c.269_270delinsTG MANE Select	NP_079496.1:n.269_270delinsTG
NM_153202.4:c.269_270delinsTG	NP_694882.1:n.269_270delinsTG