Canonical Allele Identifier: CA2687400478

Gene: CHD7

Linked Data

• gnomAD v4: 8-60860753-T-TAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60860754_60860755insAAAA , CM000670.2:g.60860754_60860755insAAAA	GRCh38
NC_000008.10:g.61773313_61773314insAAAA , CM000670.1:g.61773313_61773314insAAAA	GRCh37
NC_000008.9:g.61935867_61935868insAAAA	NCBI36
NG_007009.1:g.186975_186976insAAAA , LRG_176:g.186975_186976insAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.785-150_785-149insAAAA
ENST00000695853.1:c.*668-150_*668-149insAAAA	ENSP00000512218.1:n.*668-150_*668-149insAAAA
ENST00000423902.7:c.7609-150_7609-149insAAAA MANE Select	ENSP00000392028.1:n.7609-150_7609-149insAAAA
ENST00000423902.6:c.7609-150_7609-149insAAAA	ENSP00000392028.1:n.7609-150_7609-149insAAAA
ENST00000524602.5:c.1717-1475_1717-1474insAAAA	ENSP00000437061.1:n.1717-1475_1717-1474insAAAA
ENST00000531695.1:n.33-150_33-149insAAAA
NM_001316690.1:c.1717-1475_1717-1474insAAAA	NP_001303619.1:n.1717-1475_1717-1474insAAAA
NM_017780.3:c.7609-150_7609-149insAAAA	NP_060250.2:n.7609-150_7609-149insAAAA
XM_011517553.1:c.7699-150_7699-149insAAAA	XP_011515855.1:n.7699-150_7699-149insAAAA
XM_011517554.1:c.7699-150_7699-149insAAAA	XP_011515856.1:n.7699-150_7699-149insAAAA
XM_011517555.1:c.7696-150_7696-149insAAAA	XP_011515857.1:n.7696-150_7696-149insAAAA
XM_011517556.1:c.7699-1442_7699-1441insAAAA	XP_011515858.1:n.7699-1442_7699-1441insAAAA
XM_011517557.1:c.5686-150_5686-149insAAAA	XP_011515859.1:n.5686-150_5686-149insAAAA
XM_011517558.1:c.5236-150_5236-149insAAAA	XP_011515860.1:n.5236-150_5236-149insAAAA
XM_011517559.1:c.4444-150_4444-149insAAAA	XP_011515861.1:n.4444-150_4444-149insAAAA
XM_011517553.2:c.7699-150_7699-149insAAAA	XP_011515855.1:n.7699-150_7699-149insAAAA
XM_011517554.3:c.7699-150_7699-149insAAAA	XP_011515856.1:n.7699-150_7699-149insAAAA
XM_011517555.2:c.7696-150_7696-149insAAAA	XP_011515857.1:n.7696-150_7696-149insAAAA
XM_017013612.1:c.7699-150_7699-149insAAAA	XP_016869101.1:n.7699-150_7699-149insAAAA
XM_017013613.1:c.7606-150_7606-149insAAAA	XP_016869102.1:n.7606-150_7606-149insAAAA
NM_017780.4:c.7609-150_7609-149insAAAA MANE Select	NP_060250.2:n.7609-150_7609-149insAAAA