Canonical Allele Identifier: CA1114442071

Gene: CHD7

Linked Data

• dbSNP Id: rs532046245
• gnomAD v3: 8-60780759-ATT-A
• gnomAD v4: 8-60780759-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60780767_60780768del , CM000670.2:g.60780767_60780768del	GRCh38
NC_000008.10:g.61693326_61693327del , CM000670.1:g.61693326_61693327del	GRCh37
NC_000008.9:g.61855880_61855881del	NCBI36
NG_007009.1:g.106988_106989del , LRG_176:g.106988_106989del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2179-233_2179-232del
ENST00000695849.1:n.2179-233_2179-232del
ENST00000695853.1:c.1666-233_1666-232del	ENSP00000512218.1:n.1666-233_1666-232del
ENST00000700671.1:c.1666-233_1666-232del	ENSP00000515139.1:n.1666-233_1666-232del
ENST00000423902.7:c.1666-233_1666-232del MANE Select	ENSP00000392028.1:n.1666-233_1666-232del
ENST00000423902.6:c.1666-233_1666-232del	ENSP00000392028.1:n.1666-233_1666-232del
ENST00000524602.5:c.1666-233_1666-232del	ENSP00000437061.1:n.1666-233_1666-232del
ENST00000525508.1:c.1666-233_1666-232del	ENSP00000436027.1:n.1666-233_1666-232del
ENST00000527825.1:c.310-233_310-232del
ENST00000527900.1:c.67-233_67-232del	ENSP00000433336.1:n.67-233_67-232del
NM_001316690.1:c.1666-233_1666-232del	NP_001303619.1:n.1666-233_1666-232del
NM_017780.3:c.1666-233_1666-232del	NP_060250.2:n.1666-233_1666-232del
XM_011517553.1:c.1666-233_1666-232del	XP_011515855.1:n.1666-233_1666-232del
XM_011517554.1:c.1666-233_1666-232del	XP_011515856.1:n.1666-233_1666-232del
XM_011517555.1:c.1666-233_1666-232del	XP_011515857.1:n.1666-233_1666-232del
XM_011517556.1:c.1666-233_1666-232del	XP_011515858.1:n.1666-233_1666-232del
XM_011517560.1:c.1666-233_1666-232del	XP_011515862.1:n.1666-233_1666-232del
XM_011517553.2:c.1666-233_1666-232del	XP_011515855.1:n.1666-233_1666-232del
XM_011517554.3:c.1666-233_1666-232del	XP_011515856.1:n.1666-233_1666-232del
XM_011517555.2:c.1666-233_1666-232del	XP_011515857.1:n.1666-233_1666-232del
XM_011517560.2:c.1666-233_1666-232del	XP_011515862.1:n.1666-233_1666-232del
XM_017013612.1:c.1666-233_1666-232del	XP_016869101.1:n.1666-233_1666-232del
XM_017013613.1:c.1666-233_1666-232del	XP_016869102.1:n.1666-233_1666-232del
NM_017780.4:c.1666-233_1666-232del MANE Select	NP_060250.2:n.1666-233_1666-232del