Canonical Allele Identifier: CA2697549948

Gene: CHD7

Linked Data

• ClinVar Variation Id: 2733968
• ClinVar RCV Id: RCV003499909

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853097_60853099del , CM000670.2:g.60853097_60853099del	GRCh38
NC_000008.10:g.61765656_61765658del , CM000670.1:g.61765656_61765658del	GRCh37
NC_000008.9:g.61928210_61928212del	NCBI36
NG_007009.1:g.179318_179320del , LRG_176:g.179318_179320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6372_6374del	ENSP00000512218.1:p.Phe2124del
ENST00000423902.7:c.6372_6374del MANE Select	ENSP00000392028.1:p.Phe2124del
ENST00000423902.6:c.6372_6374del	ENSP00000392028.1:p.Phe2124del
ENST00000524602.5:c.1717-9132_1717-9130del	ENSP00000437061.1:n.1717-9132_1717-9130del
NM_001316690.1:c.1717-9132_1717-9130del	NP_001303619.1:n.1717-9132_1717-9130del
NM_017780.3:c.6372_6374del	NP_060250.2:p.Phe2124del
XM_011517553.1:c.6462_6464del	XP_011515855.1:p.Phe2154del
XM_011517554.1:c.6462_6464del	XP_011515856.1:p.Phe2154del
XM_011517555.1:c.6462_6464del	XP_011515857.1:p.Phe2154del
XM_011517556.1:c.6462_6464del	XP_011515858.1:p.Phe2154del
XM_011517557.1:c.4449_4451del	XP_011515859.1:p.Phe1483del
XM_011517558.1:c.3999_4001del	XP_011515860.1:p.Phe1333del
XM_011517559.1:c.3207_3209del	XP_011515861.1:p.Phe1069del
XM_011517553.2:c.6462_6464del	XP_011515855.1:p.Phe2154del
XM_011517554.3:c.6462_6464del	XP_011515856.1:p.Phe2154del
XM_011517555.2:c.6462_6464del	XP_011515857.1:p.Phe2154del
XM_017013612.1:c.6462_6464del	XP_016869101.1:p.Phe2154del
XM_017013613.1:c.6372_6374del	XP_016869102.1:p.Phe2124del
NM_017780.4:c.6372_6374del MANE Select	NP_060250.2:p.Phe2124del