Canonical Allele Identifier: CA1788102004

Gene: CHD7

Linked Data

• dbSNP Id: rs1805510268

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852766dup , CM000670.2:g.60852766dup	GRCh38
NC_000008.10:g.61765325dup , CM000670.1:g.61765325dup	GRCh37
NC_000008.9:g.61927879dup	NCBI36
NG_007009.1:g.178987dup , LRG_176:g.178987dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6103+60dup	ENSP00000512218.1:n.6103+60dup
ENST00000423902.7:c.6103+60dup MANE Select	ENSP00000392028.1:n.6103+60dup
ENST00000423902.6:c.6103+60dup	ENSP00000392028.1:n.6103+60dup
ENST00000524602.5:c.1717-9463dup	ENSP00000437061.1:n.1717-9463dup
NM_001316690.1:c.1717-9463dup	NP_001303619.1:n.1717-9463dup
NM_017780.3:c.6103+60dup	NP_060250.2:n.6103+60dup
XM_011517553.1:c.6193+60dup	XP_011515855.1:n.6193+60dup
XM_011517554.1:c.6193+60dup	XP_011515856.1:n.6193+60dup
XM_011517555.1:c.6193+60dup	XP_011515857.1:n.6193+60dup
XM_011517556.1:c.6193+60dup	XP_011515858.1:n.6193+60dup
XM_011517557.1:c.4180+60dup	XP_011515859.1:n.4180+60dup
XM_011517558.1:c.3730+60dup	XP_011515860.1:n.3730+60dup
XM_011517559.1:c.2938+60dup	XP_011515861.1:n.2938+60dup
XM_011517553.2:c.6193+60dup	XP_011515855.1:n.6193+60dup
XM_011517554.3:c.6193+60dup	XP_011515856.1:n.6193+60dup
XM_011517555.2:c.6193+60dup	XP_011515857.1:n.6193+60dup
XM_017013612.1:c.6193+60dup	XP_016869101.1:n.6193+60dup
XM_017013613.1:c.6103+60dup	XP_016869102.1:n.6103+60dup
NM_017780.4:c.6103+60dup MANE Select	NP_060250.2:n.6103+60dup