Canonical Allele Identifier: CA2717412540

Gene: CHD7

Linked Data

• dbSNP Id: rs2150670179

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781392_60781393insGCAAAG , CM000670.2:g.60781392_60781393insGCAAAG	GRCh38
NC_000008.10:g.61693951_61693952insGCAAAG , CM000670.1:g.61693951_61693952insGCAAAG	GRCh37
NC_000008.9:g.61856505_61856506insGCAAAG	NCBI36
NG_007009.1:g.107613_107614insGCAAAG , LRG_176:g.107613_107614insGCAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2571_2572insGCAAAG
ENST00000695849.1:n.2571_2572insGCAAAG
ENST00000695853.1:c.2058_2059insGCAAAG	ENSP00000512218.1:p.Lys686_Thr687insAlaLys
ENST00000423902.7:c.2058_2059insGCAAAG MANE Select	ENSP00000392028.1:p.Lys686_Thr687insAlaLys
ENST00000423902.6:c.2058_2059insGCAAAG	ENSP00000392028.1:p.Lys686_Thr687insAlaLys
ENST00000524602.5:c.1716+342_1716+343insGCAAAG	ENSP00000437061.1:n.1716+342_1716+343insGCAAAG
ENST00000525508.1:c.2058_2059insGCAAAG	ENSP00000436027.1:p.Lys686_Thr687insAlaLys
ENST00000527900.1:c.117+342_117+343insGCAAAG	ENSP00000433336.1:n.117+342_117+343insGCAAAG
NM_001316690.1:c.1716+342_1716+343insGCAAAG	NP_001303619.1:n.1716+342_1716+343insGCAAAG
NM_017780.3:c.2058_2059insGCAAAG	NP_060250.2:p.Lys686_Thr687insAlaLys
XM_011517553.1:c.2058_2059insGCAAAG	XP_011515855.1:p.Lys686_Thr687insAlaLys
XM_011517554.1:c.2058_2059insGCAAAG	XP_011515856.1:p.Lys686_Thr687insAlaLys
XM_011517555.1:c.2058_2059insGCAAAG	XP_011515857.1:p.Lys686_Thr687insAlaLys
XM_011517556.1:c.2058_2059insGCAAAG	XP_011515858.1:p.Lys686_Thr687insAlaLys
XM_011517560.1:c.2058_2059insGCAAAG	XP_011515862.1:p.Lys686_Thr687insAlaLys
XM_011517553.2:c.2058_2059insGCAAAG	XP_011515855.1:p.Lys686_Thr687insAlaLys
XM_011517554.3:c.2058_2059insGCAAAG	XP_011515856.1:p.Lys686_Thr687insAlaLys
XM_011517555.2:c.2058_2059insGCAAAG	XP_011515857.1:p.Lys686_Thr687insAlaLys
XM_011517560.2:c.2058_2059insGCAAAG	XP_011515862.1:p.Lys686_Thr687insAlaLys
XM_017013612.1:c.2058_2059insGCAAAG	XP_016869101.1:p.Lys686_Thr687insAlaLys
XM_017013613.1:c.2058_2059insGCAAAG	XP_016869102.1:p.Lys686_Thr687insAlaLys
NM_017780.4:c.2058_2059insGCAAAG MANE Select	NP_060250.2:p.Lys686_Thr687insAlaLys