Canonical Allele Identifier: CA2687402685

Gene: CHD7

Linked Data

• gnomAD v4: 8-60849202-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849205_60849207del , CM000670.2:g.60849205_60849207del	GRCh38
NC_000008.10:g.61761764_61761766del , CM000670.1:g.61761764_61761766del	GRCh37
NC_000008.9:g.61924318_61924320del	NCBI36
NG_007009.1:g.175426_175428del , LRG_176:g.175426_175428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5404+51_5404+53del	ENSP00000512218.1:n.5404+51_5404+53del
ENST00000423902.7:c.5404+51_5404+53del MANE Select	ENSP00000392028.1:n.5404+51_5404+53del
ENST00000423902.6:c.5404+51_5404+53del	ENSP00000392028.1:n.5404+51_5404+53del
ENST00000524602.5:c.1717-13024_1717-13022del	ENSP00000437061.1:n.1717-13024_1717-13022del
NM_001316690.1:c.1717-13024_1717-13022del	NP_001303619.1:n.1717-13024_1717-13022del
NM_017780.3:c.5404+51_5404+53del	NP_060250.2:n.5404+51_5404+53del
XM_011517553.1:c.5494+51_5494+53del	XP_011515855.1:n.5494+51_5494+53del
XM_011517554.1:c.5494+51_5494+53del	XP_011515856.1:n.5494+51_5494+53del
XM_011517555.1:c.5494+51_5494+53del	XP_011515857.1:n.5494+51_5494+53del
XM_011517556.1:c.5494+51_5494+53del	XP_011515858.1:n.5494+51_5494+53del
XM_011517557.1:c.3481+51_3481+53del	XP_011515859.1:n.3481+51_3481+53del
XM_011517558.1:c.3031+51_3031+53del	XP_011515860.1:n.3031+51_3031+53del
XM_011517559.1:c.2239+51_2239+53del	XP_011515861.1:n.2239+51_2239+53del
XM_011517553.2:c.5494+51_5494+53del	XP_011515855.1:n.5494+51_5494+53del
XM_011517554.3:c.5494+51_5494+53del	XP_011515856.1:n.5494+51_5494+53del
XM_011517555.2:c.5494+51_5494+53del	XP_011515857.1:n.5494+51_5494+53del
XM_017013612.1:c.5494+51_5494+53del	XP_016869101.1:n.5494+51_5494+53del
XM_017013613.1:c.5404+51_5404+53del	XP_016869102.1:n.5404+51_5404+53del
NM_017780.4:c.5404+51_5404+53del MANE Select	NP_060250.2:n.5404+51_5404+53del