Canonical Allele Identifier: CA1139660563

Gene: CHD7

Linked Data

• ClinVar Variation Id: 953238
• ClinVar RCV Id: RCV001225497
• dbSNP Id: rs1805310101

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848513_60848531del , CM000670.2:g.60848513_60848531del	GRCh38
NC_000008.10:g.61761072_61761090del , CM000670.1:g.61761072_61761090del	GRCh37
NC_000008.9:g.61923626_61923644del	NCBI36
NG_007009.1:g.174734_174752del , LRG_176:g.174734_174752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5211-2_5227del
ENST00000423902.7:c.5211-2_5227del
ENST00000423902.6:c.5211-2_5227del
ENST00000524602.5:c.1717-13716_1717-13698del	ENSP00000437061.1:n.1717-13716_1717-13698del
NM_001316690.1:c.1717-13716_1717-13698del	NP_001303619.1:n.1717-13716_1717-13698del
NM_017780.3:c.5211-2_5227del
XM_011517553.1:c.5301-2_5317del
XM_011517554.1:c.5301-2_5317del
XM_011517555.1:c.5301-2_5317del
XM_011517556.1:c.5301-2_5317del
XM_011517557.1:c.3288-2_3304del
XM_011517558.1:c.2838-2_2854del
XM_011517559.1:c.2046-2_2062del
XM_011517553.2:c.5301-2_5317del
XM_011517554.3:c.5301-2_5317del
XM_011517555.2:c.5301-2_5317del
XM_017013612.1:c.5301-2_5317del
XM_017013613.1:c.5211-2_5227del
NM_017780.4:c.5211-2_5227del