Canonical Allele Identifier: CA4760203

Gene: CHD7

Linked Data

• dbSNP Id: rs780192861
• ExAC: 8:61754624 C / CGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT
• MyVariant Identifiers: chr8:g.61754624_61754625insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT (hg19) ; chr8:g.60842065_60842066insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842065_60842066insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT , CM000670.2:g.60842065_60842066insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	GRCh38
NC_000008.10:g.61754624_61754625insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT , CM000670.1:g.61754624_61754625insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	GRCh37
NC_000008.9:g.61917178_61917179insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	NCBI36
NG_007009.1:g.168286_168287insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT , LRG_176:g.168286_168287insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	ENSP00000512218.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGAC...
ENST00000423902.7:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT MANE Select	ENSP00000392028.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGAC...
ENST00000423902.6:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	ENSP00000392028.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGAC...
ENST00000524602.5:c.1717-20164_1717-20163insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	ENSP00000437061.1:n.1717-20164_1717-20163insGGCTTCTTCTGCTGTGT...
NM_001316690.1:c.1717-20164_1717-20163insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	NP_001303619.1:n.1717-20164_1717-20163insGGCTTCTTCTGCTGTGTTCT...
NM_017780.3:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	NP_060250.2:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCAT...
XM_011517553.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515855.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517554.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515856.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517555.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515857.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517556.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515858.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517557.1:c.2837+13_2837+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515859.1:n.2837+13_2837+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517558.1:c.2387+13_2387+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515860.1:n.2387+13_2387+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517559.1:c.1595+13_1595+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515861.1:n.1595+13_1595+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517560.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515862.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517553.2:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515855.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517554.3:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515856.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517555.2:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515857.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_011517560.2:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_011515862.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_017013612.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_016869101.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
XM_017013613.1:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT	XP_016869102.1:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTC...
NM_017780.4:c.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCATGCTCCAAGCATTGGT MANE Select	NP_060250.2:n.4850+13_4850+14insGGCTTCTTCTGCTGTGTTCTGACCTCCAT...