Canonical Allele Identifier: CA2695209739

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848545_60848548del , CM000670.2:g.60848545_60848548del	GRCh38
NC_000008.10:g.61761104_61761107del , CM000670.1:g.61761104_61761107del	GRCh37
NC_000008.9:g.61923658_61923661del	NCBI36
NG_007009.1:g.174766_174769del , LRG_176:g.174766_174769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5241_5244del	ENSP00000512218.1:p.Tyr1747Ter
ENST00000423902.7:c.5241_5244del MANE Select	ENSP00000392028.1:p.Tyr1747Ter
ENST00000423902.6:c.5241_5244del	ENSP00000392028.1:p.Tyr1747Ter
ENST00000524602.5:c.1717-13684_1717-13681del	ENSP00000437061.1:n.1717-13684_1717-13681del
NM_001316690.1:c.1717-13684_1717-13681del	NP_001303619.1:n.1717-13684_1717-13681del
NM_017780.3:c.5241_5244del	NP_060250.2:p.Tyr1747Ter
XM_011517553.1:c.5331_5334del	XP_011515855.1:p.Tyr1777Ter
XM_011517554.1:c.5331_5334del	XP_011515856.1:p.Tyr1777Ter
XM_011517555.1:c.5331_5334del	XP_011515857.1:p.Tyr1777Ter
XM_011517556.1:c.5331_5334del	XP_011515858.1:p.Tyr1777Ter
XM_011517557.1:c.3318_3321del	XP_011515859.1:p.Tyr1106Ter
XM_011517558.1:c.2868_2871del	XP_011515860.1:p.Tyr956Ter
XM_011517559.1:c.2076_2079del	XP_011515861.1:p.Tyr692Ter
XM_011517553.2:c.5331_5334del	XP_011515855.1:p.Tyr1777Ter
XM_011517554.3:c.5331_5334del	XP_011515856.1:p.Tyr1777Ter
XM_011517555.2:c.5331_5334del	XP_011515857.1:p.Tyr1777Ter
XM_017013612.1:c.5331_5334del	XP_016869101.1:p.Tyr1777Ter
XM_017013613.1:c.5241_5244del	XP_016869102.1:p.Tyr1747Ter
NM_017780.4:c.5241_5244del MANE Select	NP_060250.2:p.Tyr1747Ter