Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3668463_3668467delinsCAGGA , CM000682.2:g.3668463_3668467delinsCAGGA	GRCh38
NC_000020.10:g.3649110_3649114delinsCAGGA , CM000682.1:g.3649110_3649114delinsCAGGA	GRCh37
NC_000020.9:g.3597110_3597114delinsCAGGA	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000356518.7:c.496_500delinsTCCTG MANE Select	ENSP00000348912.3:n.496_500delinsTCCTG
ENST00000350009.6:c.496_500delinsTCCTG	ENSP00000322550.5:n.496_500delinsTCCTG
ENST00000356518.6:c.496_500delinsTCCTG	ENSP00000348912.2:n.496_500delinsTCCTG
ENST00000379861.8:c.496_500delinsTCCTG	ENSP00000369190.4:n.496_500delinsTCCTG
ENST00000466620.5:n.2499_2503delinsTCCTG
ENST00000483362.1:n.1861_1865delinsTCCTG
ENST00000619289.4:c.496_500delinsTCCTG	ENSP00000484600.1:n.496_500delinsTCCTG
NM_001282447.1:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.3:c.496_500delinsTCCTG	NP_079496.1:n.496_500delinsTCCTG
NM_153202.2:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG
XM_005260843.1:c.496_500delinsTCCTG	XP_005260900.1:n.496_500delinsTCCTG
XM_006723639.1:c.496_500delinsTCCTG	XP_006723702.1:n.496_500delinsTCCTG
XM_006723640.1:c.496_500delinsTCCTG	XP_006723703.1:n.496_500delinsTCCTG
XM_011529366.1:c.496_500delinsTCCTG	XP_011527668.1:n.496_500delinsTCCTG
XM_011529367.1:c.496_500delinsTCCTG	XP_011527669.1:n.496_500delinsTCCTG
XM_011529368.1:c.496_500delinsTCCTG	XP_011527670.1:n.496_500delinsTCCTG
XM_011529373.1:c.496_500delinsTCCTG	XP_011527675.1:n.496_500delinsTCCTG
XR_937153.1:n.2959_2963delinsTCCTG
XR_937154.1:n.2959_2963delinsTCCTG
XR_937155.1:n.2880_2884delinsTCCTG
XR_937157.1:n.2882_2886delinsTCCTG
NM_001282447.2:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.4:c.496_500delinsTCCTG	NP_079496.1:n.496_500delinsTCCTG
NM_153202.3:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG
XM_011529373.2:c.496_500delinsTCCTG	XP_011527675.1:n.496_500delinsTCCTG
XR_001754405.1:n.3046_3050delinsTCCTG
XR_002958534.1:n.3155_3159delinsTCCTG
NM_001282447.3:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.5:c.496_500delinsTCCTG MANE Select	NP_079496.1:n.496_500delinsTCCTG
NM_153202.4:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG

HGVS	Amino-acid change
ENST00000356518.7:c.496_500delinsTCCTG MANE Select	ENSP00000348912.3:n.496_500delinsTCCTG
ENST00000350009.6:c.496_500delinsTCCTG	ENSP00000322550.5:n.496_500delinsTCCTG
ENST00000356518.6:c.496_500delinsTCCTG	ENSP00000348912.2:n.496_500delinsTCCTG
ENST00000379861.8:c.496_500delinsTCCTG	ENSP00000369190.4:n.496_500delinsTCCTG
ENST00000466620.5:n.2499_2503delinsTCCTG
ENST00000483362.1:n.1861_1865delinsTCCTG
ENST00000619289.4:c.496_500delinsTCCTG	ENSP00000484600.1:n.496_500delinsTCCTG
NM_001282447.1:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.3:c.496_500delinsTCCTG	NP_079496.1:n.496_500delinsTCCTG
NM_153202.2:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG
XM_005260843.1:c.496_500delinsTCCTG	XP_005260900.1:n.496_500delinsTCCTG
XM_006723639.1:c.496_500delinsTCCTG	XP_006723702.1:n.496_500delinsTCCTG
XM_006723640.1:c.496_500delinsTCCTG	XP_006723703.1:n.496_500delinsTCCTG
XM_011529366.1:c.496_500delinsTCCTG	XP_011527668.1:n.496_500delinsTCCTG
XM_011529367.1:c.496_500delinsTCCTG	XP_011527669.1:n.496_500delinsTCCTG
XM_011529368.1:c.496_500delinsTCCTG	XP_011527670.1:n.496_500delinsTCCTG
XM_011529373.1:c.496_500delinsTCCTG	XP_011527675.1:n.496_500delinsTCCTG
XR_937153.1:n.2959_2963delinsTCCTG
XR_937154.1:n.2959_2963delinsTCCTG
XR_937155.1:n.2880_2884delinsTCCTG
XR_937157.1:n.2882_2886delinsTCCTG
NM_001282447.2:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.4:c.496_500delinsTCCTG	NP_079496.1:n.496_500delinsTCCTG
NM_153202.3:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG
XM_011529373.2:c.496_500delinsTCCTG	XP_011527675.1:n.496_500delinsTCCTG
XR_001754405.1:n.3046_3050delinsTCCTG
XR_002958534.1:n.3155_3159delinsTCCTG
NM_001282447.3:c.496_500delinsTCCTG	NP_001269376.1:n.496_500delinsTCCTG
NM_025220.5:c.496_500delinsTCCTG MANE Select	NP_079496.1:n.496_500delinsTCCTG
NM_153202.4:c.496_500delinsTCCTG	NP_694882.1:n.496_500delinsTCCTG