Canonical Allele Identifier: CA1788103736

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853122_60853123delinsCA , CM000670.2:g.60853122_60853123delinsCA	GRCh38
NC_000008.10:g.61765681_61765682delinsCA , CM000670.1:g.61765681_61765682delinsCA	GRCh37
NC_000008.9:g.61928235_61928236delinsCA	NCBI36
NG_007009.1:g.179343_179344delinsCA , LRG_176:g.179343_179344delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6397_6398delinsCA	ENSP00000512218.1:p.Gln2133=
ENST00000423902.7:c.6397_6398delinsCA MANE Select	ENSP00000392028.1:p.Gln2133=
ENST00000423902.6:c.6397_6398delinsCA	ENSP00000392028.1:p.Gln2133=
ENST00000524602.5:c.1717-9107_1717-9106delinsCA	ENSP00000437061.1:n.1717-9107_1717-9106delinsCA
NM_001316690.1:c.1717-9107_1717-9106delinsCA	NP_001303619.1:n.1717-9107_1717-9106delinsCA
NM_017780.3:c.6397_6398delinsCA	NP_060250.2:p.Gln2133=
XM_011517553.1:c.6487_6488delinsCA	XP_011515855.1:p.Gln2163=
XM_011517554.1:c.6487_6488delinsCA	XP_011515856.1:p.Gln2163=
XM_011517555.1:c.6487_6488delinsCA	XP_011515857.1:p.Gln2163=
XM_011517556.1:c.6487_6488delinsCA	XP_011515858.1:p.Gln2163=
XM_011517557.1:c.4474_4475delinsCA	XP_011515859.1:p.Gln1492=
XM_011517558.1:c.4024_4025delinsCA	XP_011515860.1:p.Gln1342=
XM_011517559.1:c.3232_3233delinsCA	XP_011515861.1:p.Gln1078=
XM_011517553.2:c.6487_6488delinsCA	XP_011515855.1:p.Gln2163=
XM_011517554.3:c.6487_6488delinsCA	XP_011515856.1:p.Gln2163=
XM_011517555.2:c.6487_6488delinsCA	XP_011515857.1:p.Gln2163=
XM_017013612.1:c.6487_6488delinsCA	XP_016869101.1:p.Gln2163=
XM_017013613.1:c.6397_6398delinsCA	XP_016869102.1:p.Gln2133=
NM_017780.4:c.6397_6398delinsCA MANE Select	NP_060250.2:p.Gln2133=