Canonical Allele Identifier: CA658797100

Gene: CHD7

Linked Data

• ClinVar Variation Id: 521152
• ClinVar RCV Id: RCV000623241
• dbSNP Id: rs1554604059
• MyVariant Identifiers: chr8:g.61765427_61765428del (hg19) ; chr8:g.60852868_60852869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852868_60852869del , CM000670.2:g.60852868_60852869del	GRCh38
NC_000008.10:g.61765427_61765428del , CM000670.1:g.61765427_61765428del	GRCh37
NC_000008.9:g.61927981_61927982del	NCBI36
NG_007009.1:g.179089_179090del , LRG_176:g.179089_179090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6143_6144del	ENSP00000512218.1:p.Glu2048GlyfsTer11
ENST00000423902.7:c.6143_6144del MANE Select	ENSP00000392028.1:p.Glu2048GlyfsTer11
ENST00000423902.6:c.6143_6144del	ENSP00000392028.1:p.Glu2048GlyfsTer11
ENST00000524602.5:c.1717-9361_1717-9360del	ENSP00000437061.1:n.1717-9361_1717-9360de...
NM_001316690.1:c.1717-9361_1717-9360del	NP_001303619.1:n.1717-9361_1717-9360del
NM_017780.3:c.6143_6144del	NP_060250.2:p.Glu2048GlyfsTer11
XM_011517553.1:c.6233_6234del	XP_011515855.1:p.Glu2078GlyfsTer11
XM_011517554.1:c.6233_6234del	XP_011515856.1:p.Glu2078GlyfsTer11
XM_011517555.1:c.6233_6234del	XP_011515857.1:p.Glu2078GlyfsTer11
XM_011517556.1:c.6233_6234del	XP_011515858.1:p.Glu2078GlyfsTer11
XM_011517557.1:c.4220_4221del	XP_011515859.1:p.Glu1407GlyfsTer11
XM_011517558.1:c.3770_3771del	XP_011515860.1:p.Glu1257GlyfsTer11
XM_011517559.1:c.2978_2979del	XP_011515861.1:p.Glu993GlyfsTer11
XM_011517553.2:c.6233_6234del	XP_011515855.1:p.Glu2078GlyfsTer11
XM_011517554.3:c.6233_6234del	XP_011515856.1:p.Glu2078GlyfsTer11
XM_011517555.2:c.6233_6234del	XP_011515857.1:p.Glu2078GlyfsTer11
XM_017013612.1:c.6233_6234del	XP_016869101.1:p.Glu2078GlyfsTer11
XM_017013613.1:c.6143_6144del	XP_016869102.1:p.Glu2048GlyfsTer11
NM_017780.4:c.6143_6144del MANE Select	NP_060250.2:p.Glu2048GlyfsTer11