Canonical Allele Identifier: CA1788134696

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849077_60849078delinsCT , CM000670.2:g.60849077_60849078delinsCT	GRCh38
NC_000008.10:g.61761636_61761637delinsCT , CM000670.1:g.61761636_61761637delinsCT	GRCh37
NC_000008.9:g.61924190_61924191delinsCT	NCBI36
NG_007009.1:g.175298_175299delinsCT , LRG_176:g.175298_175299delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5327_5328delinsCT	ENSP00000512218.1:p.Pro1776=
ENST00000423902.7:c.5327_5328delinsCT MANE Select	ENSP00000392028.1:p.Pro1776=
ENST00000423902.6:c.5327_5328delinsCT	ENSP00000392028.1:p.Pro1776=
ENST00000524602.5:c.1717-13152_1717-13151delinsCT	ENSP00000437061.1:n.1717-13152_1717-13151delinsCT
NM_001316690.1:c.1717-13152_1717-13151delinsCT	NP_001303619.1:n.1717-13152_1717-13151delinsCT
NM_017780.3:c.5327_5328delinsCT	NP_060250.2:p.Pro1776=
XM_011517553.1:c.5417_5418delinsCT	XP_011515855.1:p.Pro1806=
XM_011517554.1:c.5417_5418delinsCT	XP_011515856.1:p.Pro1806=
XM_011517555.1:c.5417_5418delinsCT	XP_011515857.1:p.Pro1806=
XM_011517556.1:c.5417_5418delinsCT	XP_011515858.1:p.Pro1806=
XM_011517557.1:c.3404_3405delinsCT	XP_011515859.1:p.Pro1135=
XM_011517558.1:c.2954_2955delinsCT	XP_011515860.1:p.Pro985=
XM_011517559.1:c.2162_2163delinsCT	XP_011515861.1:p.Pro721=
XM_011517553.2:c.5417_5418delinsCT	XP_011515855.1:p.Pro1806=
XM_011517554.3:c.5417_5418delinsCT	XP_011515856.1:p.Pro1806=
XM_011517555.2:c.5417_5418delinsCT	XP_011515857.1:p.Pro1806=
XM_017013612.1:c.5417_5418delinsCT	XP_016869101.1:p.Pro1806=
XM_017013613.1:c.5327_5328delinsCT	XP_016869102.1:p.Pro1776=
NM_017780.4:c.5327_5328delinsCT MANE Select	NP_060250.2:p.Pro1776=