Canonical Allele Identifier: CA2695203181

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865218del , CM000670.2:g.60865218del	GRCh38
NC_000008.10:g.61777777del , CM000670.1:g.61777777del	GRCh37
NC_000008.9:g.61940331del	NCBI36
NG_007009.1:g.191439del , LRG_176:g.191439del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1455del
ENST00000695852.1:n.386del
ENST00000695853.1:c.*1338del	ENSP00000512218.1:n.*1338del
ENST00000423902.7:c.8279del MANE Select	ENSP00000392028.1:p.Asn2760IlefsTer?
ENST00000423902.6:c.8279del	ENSP00000392028.1:p.Asn2760IlefsTer?
ENST00000524602.5:c.2132del	ENSP00000437061.1:p.Asn711IlefsTer?
ENST00000528280.1:n.325del
NM_001316690.1:c.2132del	NP_001303619.1:p.Asn711IlefsTer?
NM_017780.3:c.8279del	NP_060250.2:p.Asn2760IlefsTer?
XM_011517553.1:c.8369del	XP_011515855.1:p.Asn2790IlefsTer?
XM_011517554.1:c.8369del	XP_011515856.1:p.Asn2790IlefsTer?
XM_011517555.1:c.8366del	XP_011515857.1:p.Asn2789IlefsTer?
XM_011517556.1:c.8147del	XP_011515858.1:p.Asn2716IlefsTer?
XM_011517557.1:c.6356del	XP_011515859.1:p.Asn2119IlefsTer?
XM_011517558.1:c.5906del	XP_011515860.1:p.Asn1969IlefsTer?
XM_011517559.1:c.5114del	XP_011515861.1:p.Asn1705IlefsTer?
XM_011517553.2:c.8369del	XP_011515855.1:p.Asn2790IlefsTer?
XM_011517554.3:c.8369del	XP_011515856.1:p.Asn2790IlefsTer?
XM_011517555.2:c.8366del	XP_011515857.1:p.Asn2789IlefsTer?
XM_017013612.1:c.8369del	XP_016869101.1:p.Asn2790IlefsTer?
XM_017013613.1:c.8276del	XP_016869102.1:p.Asn2759IlefsTer?
NM_017780.4:c.8279del MANE Select	NP_060250.2:p.Asn2760IlefsTer?