Canonical Allele Identifier: CA2695209681

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60836100_60836105delinsA , CM000670.2:g.60836100_60836105delinsA	GRCh38
NC_000008.10:g.61748659_61748664delinsA , CM000670.1:g.61748659_61748664delinsA	GRCh37
NC_000008.9:g.61911213_61911218delinsA	NCBI36
NG_007009.1:g.162321_162326delinsA , LRG_176:g.162321_162326delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.3806_3811delinsA	ENSP00000512218.1:p.Phe1269Ter
ENST00000423902.7:c.3806_3811delinsA MANE Select	ENSP00000392028.1:p.Phe1269Ter
ENST00000423902.6:c.3806_3811delinsA	ENSP00000392028.1:p.Phe1269Ter
ENST00000524602.5:c.1717-26129_1717-26124delinsA	ENSP00000437061.1:n.1717-26129_1717-26124...
NM_001316690.1:c.1717-26129_1717-26124delinsA	NP_001303619.1:n.1717-26129_1717-26124del...
NM_017780.3:c.3806_3811delinsA	NP_060250.2:p.Phe1269Ter
XM_011517553.1:c.3806_3811delinsA	XP_011515855.1:p.Phe1269Ter
XM_011517554.1:c.3806_3811delinsA	XP_011515856.1:p.Phe1269Ter
XM_011517555.1:c.3806_3811delinsA	XP_011515857.1:p.Phe1269Ter
XM_011517556.1:c.3806_3811delinsA	XP_011515858.1:p.Phe1269Ter
XM_011517557.1:c.1793_1798delinsA	XP_011515859.1:p.Phe598Ter
XM_011517558.1:c.1343_1348delinsA	XP_011515860.1:p.Phe448Ter
XM_011517559.1:c.551_556delinsA	XP_011515861.1:p.Phe184Ter
XM_011517560.1:c.3806_3811delinsA	XP_011515862.1:p.Phe1269Ter
XM_011517553.2:c.3806_3811delinsA	XP_011515855.1:p.Phe1269Ter
XM_011517554.3:c.3806_3811delinsA	XP_011515856.1:p.Phe1269Ter
XM_011517555.2:c.3806_3811delinsA	XP_011515857.1:p.Phe1269Ter
XM_011517560.2:c.3806_3811delinsA	XP_011515862.1:p.Phe1269Ter
XM_017013612.1:c.3806_3811delinsA	XP_016869101.1:p.Phe1269Ter
XM_017013613.1:c.3806_3811delinsA	XP_016869102.1:p.Phe1269Ter
NM_017780.4:c.3806_3811delinsA MANE Select	NP_060250.2:p.Phe1269Ter