Canonical Allele Identifier: CA2695209383

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60795128del , CM000670.2:g.60795128del	GRCh38
NC_000008.10:g.61707687del , CM000670.1:g.61707687del	GRCh37
NC_000008.9:g.61870241del	NCBI36
NG_007009.1:g.121349del , LRG_176:g.121349del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2751+1del
ENST00000695849.1:n.2751+1del
ENST00000695853.1:c.2238+1del
ENST00000423902.7:c.2238+1del
ENST00000423902.6:c.2238+1del
ENST00000524602.5:c.1716+14078del	ENSP00000437061.1:n.1716+14078del
ENST00000525508.1:c.2238+1del
ENST00000527900.1:c.259+1del
NM_001316690.1:c.1716+14078del	NP_001303619.1:n.1716+14078del
NM_017780.3:c.2238+1del
XM_011517553.1:c.2238+1del
XM_011517554.1:c.2238+1del
XM_011517555.1:c.2238+1del
XM_011517556.1:c.2238+1del
XM_011517557.1:c.225+1del
XM_011517560.1:c.2238+1del
XM_011517553.2:c.2238+1del
XM_011517554.3:c.2238+1del
XM_011517555.2:c.2238+1del
XM_011517560.2:c.2238+1del
XM_017013612.1:c.2238+1del
XM_017013613.1:c.2238+1del
NM_017780.4:c.2238+1del