Canonical Allele Identifier: CA2687402368

Gene: CHD7

Linked Data

• gnomAD v4: 8-60848562-TAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848565_60848567del , CM000670.2:g.60848565_60848567del	GRCh38
NC_000008.10:g.61761124_61761126del , CM000670.1:g.61761124_61761126del	GRCh37
NC_000008.9:g.61923678_61923680del	NCBI36
NG_007009.1:g.174786_174788del , LRG_176:g.174786_174788del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5261_5263del	ENSP00000512218.1:p.Gly1754del
ENST00000423902.7:c.5261_5263del MANE Select	ENSP00000392028.1:p.Gly1754del
ENST00000423902.6:c.5261_5263del	ENSP00000392028.1:p.Gly1754del
ENST00000524602.5:c.1717-13664_1717-13662del	ENSP00000437061.1:n.1717-13664_1717-13662del
NM_001316690.1:c.1717-13664_1717-13662del	NP_001303619.1:n.1717-13664_1717-13662del
NM_017780.3:c.5261_5263del	NP_060250.2:p.Gly1754del
XM_011517553.1:c.5351_5353del	XP_011515855.1:p.Gly1784del
XM_011517554.1:c.5351_5353del	XP_011515856.1:p.Gly1784del
XM_011517555.1:c.5351_5353del	XP_011515857.1:p.Gly1784del
XM_011517556.1:c.5351_5353del	XP_011515858.1:p.Gly1784del
XM_011517557.1:c.3338_3340del	XP_011515859.1:p.Gly1113del
XM_011517558.1:c.2888_2890del	XP_011515860.1:p.Gly963del
XM_011517559.1:c.2096_2098del	XP_011515861.1:p.Gly699del
XM_011517553.2:c.5351_5353del	XP_011515855.1:p.Gly1784del
XM_011517554.3:c.5351_5353del	XP_011515856.1:p.Gly1784del
XM_011517555.2:c.5351_5353del	XP_011515857.1:p.Gly1784del
XM_017013612.1:c.5351_5353del	XP_016869101.1:p.Gly1784del
XM_017013613.1:c.5261_5263del	XP_016869102.1:p.Gly1754del
NM_017780.4:c.5261_5263del MANE Select	NP_060250.2:p.Gly1754del