Canonical Allele Identifier: CA1788101968

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852760_60852763delinsTAAG , CM000670.2:g.60852760_60852763delinsTAAG	GRCh38
NC_000008.10:g.61765319_61765322delinsTAAG , CM000670.1:g.61765319_61765322delinsTAAG	GRCh37
NC_000008.9:g.61927873_61927876delinsTAAG	NCBI36
NG_007009.1:g.178981_178984delinsTAAG , LRG_176:g.178981_178984delinsTAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6103+54_6103+57delinsTAAG	ENSP00000512218.1:n.6103+54_6103+57delinsTAAG
ENST00000423902.7:c.6103+54_6103+57delinsTAAG MANE Select	ENSP00000392028.1:n.6103+54_6103+57delinsTAAG
ENST00000423902.6:c.6103+54_6103+57delinsTAAG	ENSP00000392028.1:n.6103+54_6103+57delinsTAAG
ENST00000524602.5:c.1717-9469_1717-9466delinsTAAG	ENSP00000437061.1:n.1717-9469_1717-9466delinsTAAG
NM_001316690.1:c.1717-9469_1717-9466delinsTAAG	NP_001303619.1:n.1717-9469_1717-9466delinsTAAG
NM_017780.3:c.6103+54_6103+57delinsTAAG	NP_060250.2:n.6103+54_6103+57delinsTAAG
XM_011517553.1:c.6193+54_6193+57delinsTAAG	XP_011515855.1:n.6193+54_6193+57delinsTAAG
XM_011517554.1:c.6193+54_6193+57delinsTAAG	XP_011515856.1:n.6193+54_6193+57delinsTAAG
XM_011517555.1:c.6193+54_6193+57delinsTAAG	XP_011515857.1:n.6193+54_6193+57delinsTAAG
XM_011517556.1:c.6193+54_6193+57delinsTAAG	XP_011515858.1:n.6193+54_6193+57delinsTAAG
XM_011517557.1:c.4180+54_4180+57delinsTAAG	XP_011515859.1:n.4180+54_4180+57delinsTAAG
XM_011517558.1:c.3730+54_3730+57delinsTAAG	XP_011515860.1:n.3730+54_3730+57delinsTAAG
XM_011517559.1:c.2938+54_2938+57delinsTAAG	XP_011515861.1:n.2938+54_2938+57delinsTAAG
XM_011517553.2:c.6193+54_6193+57delinsTAAG	XP_011515855.1:n.6193+54_6193+57delinsTAAG
XM_011517554.3:c.6193+54_6193+57delinsTAAG	XP_011515856.1:n.6193+54_6193+57delinsTAAG
XM_011517555.2:c.6193+54_6193+57delinsTAAG	XP_011515857.1:n.6193+54_6193+57delinsTAAG
XM_017013612.1:c.6193+54_6193+57delinsTAAG	XP_016869101.1:n.6193+54_6193+57delinsTAAG
XM_017013613.1:c.6103+54_6103+57delinsTAAG	XP_016869102.1:n.6103+54_6103+57delinsTAAG
NM_017780.4:c.6103+54_6103+57delinsTAAG MANE Select	NP_060250.2:n.6103+54_6103+57delinsTAAG