Canonical Allele Identifier: CA2580078863

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2442999
• ClinVar RCV Id: RCV003150844

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853246_60853250del , CM000670.2:g.60853246_60853250del	GRCh38
NC_000008.10:g.61765805_61765809del , CM000670.1:g.61765805_61765809del	GRCh37
NC_000008.9:g.61928359_61928363del	NCBI36
NG_007009.1:g.179467_179471del , LRG_176:g.179467_179471del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6521_6525del	ENSP00000512218.1:p.Lys2174ArgfsTer4
ENST00000423902.7:c.6521_6525del MANE Select	ENSP00000392028.1:p.Lys2174ArgfsTer4
ENST00000423902.6:c.6521_6525del	ENSP00000392028.1:p.Lys2174ArgfsTer4
ENST00000524602.5:c.1717-8983_1717-8979del	ENSP00000437061.1:n.1717-8983_1717-8979del
NM_001316690.1:c.1717-8983_1717-8979del	NP_001303619.1:n.1717-8983_1717-8979del
NM_017780.3:c.6521_6525del	NP_060250.2:p.Lys2174ArgfsTer4
XM_011517553.1:c.6611_6615del	XP_011515855.1:p.Lys2204ArgfsTer4
XM_011517554.1:c.6611_6615del	XP_011515856.1:p.Lys2204ArgfsTer4
XM_011517555.1:c.6611_6615del	XP_011515857.1:p.Lys2204ArgfsTer4
XM_011517556.1:c.6611_6615del	XP_011515858.1:p.Lys2204ArgfsTer4
XM_011517557.1:c.4598_4602del	XP_011515859.1:p.Lys1533ArgfsTer4
XM_011517558.1:c.4148_4152del	XP_011515860.1:p.Lys1383ArgfsTer4
XM_011517559.1:c.3356_3360del	XP_011515861.1:p.Lys1119ArgfsTer4
XM_011517553.2:c.6611_6615del	XP_011515855.1:p.Lys2204ArgfsTer4
XM_011517554.3:c.6611_6615del	XP_011515856.1:p.Lys2204ArgfsTer4
XM_011517555.2:c.6611_6615del	XP_011515857.1:p.Lys2204ArgfsTer4
XM_017013612.1:c.6611_6615del	XP_016869101.1:p.Lys2204ArgfsTer4
XM_017013613.1:c.6521_6525del	XP_016869102.1:p.Lys2174ArgfsTer4
NM_017780.4:c.6521_6525del MANE Select	NP_060250.2:p.Lys2174ArgfsTer4