Canonical Allele Identifier: CA581967089

Gene: CHD7

Linked Data

• dbSNP Id: rs1449136549
• gnomAD v2: 8-61656010-TTTAAAAATACACTGACAC-T
• gnomAD v3: 8-60743451-TTTAAAAATACACTGACAC-T
• gnomAD v4: 8-60743451-TTTAAAAATACACTGACAC-T
• MyVariant Identifiers: chr8:g.61656011_61656028del (hg19) ; chr8:g.60743452_60743469del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743454_60743471del , CM000670.2:g.60743454_60743471del	GRCh38
NC_000008.10:g.61656013_61656030del , CM000670.1:g.61656013_61656030del	GRCh37
NC_000008.9:g.61818567_61818584del	NCBI36
NG_007009.1:g.69675_69692del , LRG_176:g.69675_69692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2178+357_2178+374del
ENST00000695849.1:n.2178+357_2178+374del
ENST00000695853.1:c.1665+357_1665+374del	ENSP00000512218.1:n.1665+357_1665+374del
ENST00000700671.1:c.1665+357_1665+374del	ENSP00000515139.1:n.1665+357_1665+374del
ENST00000423902.7:c.1665+357_1665+374del MANE Select	ENSP00000392028.1:n.1665+357_1665+374del
ENST00000423902.6:c.1665+357_1665+374del	ENSP00000392028.1:n.1665+357_1665+374del
ENST00000524602.5:c.1665+357_1665+374del	ENSP00000437061.1:n.1665+357_1665+374del
ENST00000525508.1:c.1665+357_1665+374del	ENSP00000436027.1:n.1665+357_1665+374del
ENST00000527825.1:c.309+357_309+374del
ENST00000527900.1:c.66+357_66+374del	ENSP00000433336.1:n.66+357_66+374del
NM_001316690.1:c.1665+357_1665+374del	NP_001303619.1:n.1665+357_1665+374del
NM_017780.3:c.1665+357_1665+374del	NP_060250.2:n.1665+357_1665+374del
XM_011517553.1:c.1665+357_1665+374del	XP_011515855.1:n.1665+357_1665+374del
XM_011517554.1:c.1665+357_1665+374del	XP_011515856.1:n.1665+357_1665+374del
XM_011517555.1:c.1665+357_1665+374del	XP_011515857.1:n.1665+357_1665+374del
XM_011517556.1:c.1665+357_1665+374del	XP_011515858.1:n.1665+357_1665+374del
XM_011517560.1:c.1665+357_1665+374del	XP_011515862.1:n.1665+357_1665+374del
XM_011517553.2:c.1665+357_1665+374del	XP_011515855.1:n.1665+357_1665+374del
XM_011517554.3:c.1665+357_1665+374del	XP_011515856.1:n.1665+357_1665+374del
XM_011517555.2:c.1665+357_1665+374del	XP_011515857.1:n.1665+357_1665+374del
XM_011517560.2:c.1665+357_1665+374del	XP_011515862.1:n.1665+357_1665+374del
XM_017013612.1:c.1665+357_1665+374del	XP_016869101.1:n.1665+357_1665+374del
XM_017013613.1:c.1665+357_1665+374del	XP_016869102.1:n.1665+357_1665+374del
NM_017780.4:c.1665+357_1665+374del MANE Select	NP_060250.2:n.1665+357_1665+374del