Canonical Allele Identifier: CA2687404403

Gene: CHD7

Linked Data

• gnomAD v4: 8-60853367-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853372del , CM000670.2:g.60853372del	GRCh38
NC_000008.10:g.61765931del , CM000670.1:g.61765931del	GRCh37
NC_000008.9:g.61928485del	NCBI36
NG_007009.1:g.179593del , LRG_176:g.179593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6647del	ENSP00000512218.1:p.Asn2216MetfsTer3
ENST00000423902.7:c.6647del MANE Select	ENSP00000392028.1:p.Asn2216MetfsTer3
ENST00000423902.6:c.6647del	ENSP00000392028.1:p.Asn2216MetfsTer3
ENST00000524602.5:c.1717-8857del	ENSP00000437061.1:n.1717-8857del
NM_001316690.1:c.1717-8857del	NP_001303619.1:n.1717-8857del
NM_017780.3:c.6647del	NP_060250.2:p.Asn2216MetfsTer3
XM_011517553.1:c.6737del	XP_011515855.1:p.Asn2246MetfsTer3
XM_011517554.1:c.6737del	XP_011515856.1:p.Asn2246MetfsTer3
XM_011517555.1:c.6737del	XP_011515857.1:p.Asn2246MetfsTer3
XM_011517556.1:c.6737del	XP_011515858.1:p.Asn2246MetfsTer3
XM_011517557.1:c.4724del	XP_011515859.1:p.Asn1575MetfsTer3
XM_011517558.1:c.4274del	XP_011515860.1:p.Asn1425MetfsTer3
XM_011517559.1:c.3482del	XP_011515861.1:p.Asn1161MetfsTer3
XM_011517553.2:c.6737del	XP_011515855.1:p.Asn2246MetfsTer3
XM_011517554.3:c.6737del	XP_011515856.1:p.Asn2246MetfsTer3
XM_011517555.2:c.6737del	XP_011515857.1:p.Asn2246MetfsTer3
XM_017013612.1:c.6737del	XP_016869101.1:p.Asn2246MetfsTer3
XM_017013613.1:c.6647del	XP_016869102.1:p.Asn2216MetfsTer3
NM_017780.4:c.6647del MANE Select	NP_060250.2:p.Asn2216MetfsTer3