Canonical Allele Identifier: CA277453

Gene: CHD7

Linked Data

• ClinVar Variation Id: 210723
• ClinVar RCV Id: RCV000195205
• dbSNP Id: rs797045471
• MyVariant Identifiers: chr8:g.61765810del (hg19) ; chr8:g.60853251del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853251del , CM000670.2:g.60853251del	GRCh38
NC_000008.10:g.61765810del , CM000670.1:g.61765810del	GRCh37
NC_000008.9:g.61928364del	NCBI36
NG_007009.1:g.179472del , LRG_176:g.179472del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6526del	ENSP00000512218.1:p.Glu2176ArgfsTer?
ENST00000423902.7:c.6526del MANE Select	ENSP00000392028.1:p.Glu2176ArgfsTer?
ENST00000423902.6:c.6526del	ENSP00000392028.1:p.Glu2176ArgfsTer?
ENST00000524602.5:c.1717-8978del	ENSP00000437061.1:n.1717-8978del
NM_001316690.1:c.1717-8978del	NP_001303619.1:n.1717-8978del
NM_017780.3:c.6526del	NP_060250.2:p.Glu2176ArgfsTer?
XM_011517553.1:c.6616del	XP_011515855.1:p.Glu2206ArgfsTer?
XM_011517554.1:c.6616del	XP_011515856.1:p.Glu2206ArgfsTer?
XM_011517555.1:c.6616del	XP_011515857.1:p.Glu2206ArgfsTer?
XM_011517556.1:c.6616del	XP_011515858.1:p.Glu2206ArgfsTer?
XM_011517557.1:c.4603del	XP_011515859.1:p.Glu1535ArgfsTer?
XM_011517558.1:c.4153del	XP_011515860.1:p.Glu1385ArgfsTer?
XM_011517559.1:c.3361del	XP_011515861.1:p.Glu1121ArgfsTer?
XM_011517553.2:c.6616del	XP_011515855.1:p.Glu2206ArgfsTer?
XM_011517554.3:c.6616del	XP_011515856.1:p.Glu2206ArgfsTer?
XM_011517555.2:c.6616del	XP_011515857.1:p.Glu2206ArgfsTer?
XM_017013612.1:c.6616del	XP_016869101.1:p.Glu2206ArgfsTer?
XM_017013613.1:c.6526del	XP_016869102.1:p.Glu2176ArgfsTer?
NM_017780.4:c.6526del MANE Select	NP_060250.2:p.Glu2176ArgfsTer?