Canonical Allele Identifier: CA2579173707

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852982_60852983del , CM000670.2:g.60852982_60852983del	GRCh38
NC_000008.10:g.61765541_61765542del , CM000670.1:g.61765541_61765542del	GRCh37
NC_000008.9:g.61928095_61928096del	NCBI36
NG_007009.1:g.179203_179204del , LRG_176:g.179203_179204del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6257_6258del	ENSP00000512218.1:p.Asp2086AlafsTer11
ENST00000423902.7:c.6257_6258del MANE Select	ENSP00000392028.1:p.Asp2086AlafsTer11
ENST00000423902.6:c.6257_6258del	ENSP00000392028.1:p.Asp2086AlafsTer11
ENST00000524602.5:c.1717-9247_1717-9246del	ENSP00000437061.1:n.1717-9247_1717-9246del
NM_001316690.1:c.1717-9247_1717-9246del	NP_001303619.1:n.1717-9247_1717-9246del
NM_017780.3:c.6257_6258del	NP_060250.2:p.Asp2086AlafsTer11
XM_011517553.1:c.6347_6348del	XP_011515855.1:p.Asp2116AlafsTer11
XM_011517554.1:c.6347_6348del	XP_011515856.1:p.Asp2116AlafsTer11
XM_011517555.1:c.6347_6348del	XP_011515857.1:p.Asp2116AlafsTer11
XM_011517556.1:c.6347_6348del	XP_011515858.1:p.Asp2116AlafsTer11
XM_011517557.1:c.4334_4335del	XP_011515859.1:p.Asp1445AlafsTer11
XM_011517558.1:c.3884_3885del	XP_011515860.1:p.Asp1295AlafsTer11
XM_011517559.1:c.3092_3093del	XP_011515861.1:p.Asp1031AlafsTer11
XM_011517553.2:c.6347_6348del	XP_011515855.1:p.Asp2116AlafsTer11
XM_011517554.3:c.6347_6348del	XP_011515856.1:p.Asp2116AlafsTer11
XM_011517555.2:c.6347_6348del	XP_011515857.1:p.Asp2116AlafsTer11
XM_017013612.1:c.6347_6348del	XP_016869101.1:p.Asp2116AlafsTer11
XM_017013613.1:c.6257_6258del	XP_016869102.1:p.Asp2086AlafsTer11
NM_017780.4:c.6257_6258del MANE Select	NP_060250.2:p.Asp2086AlafsTer11