Canonical Allele Identifier: CA2695209422

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853130_60853131del , CM000670.2:g.60853130_60853131del	GRCh38
NC_000008.10:g.61765689_61765690del , CM000670.1:g.61765689_61765690del	GRCh37
NC_000008.9:g.61928243_61928244del	NCBI36
NG_007009.1:g.179351_179352del , LRG_176:g.179351_179352del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6405_6406del	ENSP00000512218.1:p.Ala2137ArgfsTer2
ENST00000423902.7:c.6405_6406del MANE Select	ENSP00000392028.1:p.Ala2137ArgfsTer2
ENST00000423902.6:c.6405_6406del	ENSP00000392028.1:p.Ala2137ArgfsTer2
ENST00000524602.5:c.1717-9099_1717-9098del	ENSP00000437061.1:n.1717-9099_1717-9098del
NM_001316690.1:c.1717-9099_1717-9098del	NP_001303619.1:n.1717-9099_1717-9098del
NM_017780.3:c.6405_6406del	NP_060250.2:p.Ala2137ArgfsTer2
XM_011517553.1:c.6495_6496del	XP_011515855.1:p.Ala2167ArgfsTer2
XM_011517554.1:c.6495_6496del	XP_011515856.1:p.Ala2167ArgfsTer2
XM_011517555.1:c.6495_6496del	XP_011515857.1:p.Ala2167ArgfsTer2
XM_011517556.1:c.6495_6496del	XP_011515858.1:p.Ala2167ArgfsTer2
XM_011517557.1:c.4482_4483del	XP_011515859.1:p.Ala1496ArgfsTer2
XM_011517558.1:c.4032_4033del	XP_011515860.1:p.Ala1346ArgfsTer2
XM_011517559.1:c.3240_3241del	XP_011515861.1:p.Ala1082ArgfsTer2
XM_011517553.2:c.6495_6496del	XP_011515855.1:p.Ala2167ArgfsTer2
XM_011517554.3:c.6495_6496del	XP_011515856.1:p.Ala2167ArgfsTer2
XM_011517555.2:c.6495_6496del	XP_011515857.1:p.Ala2167ArgfsTer2
XM_017013612.1:c.6495_6496del	XP_016869101.1:p.Ala2167ArgfsTer2
XM_017013613.1:c.6405_6406del	XP_016869102.1:p.Ala2137ArgfsTer2
NM_017780.4:c.6405_6406del MANE Select	NP_060250.2:p.Ala2137ArgfsTer2