Canonical Allele Identifier: CA2553062448

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852672_60852677del , CM000670.2:g.60852672_60852677del	GRCh38
NC_000008.10:g.61765231_61765236del , CM000670.1:g.61765231_61765236del	GRCh37
NC_000008.9:g.61927785_61927790del	NCBI36
NG_007009.1:g.178893_178898del , LRG_176:g.178893_178898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6069_6074del	ENSP00000512218.1:p.Arg2024_Val2025del
ENST00000423902.7:c.6069_6074del MANE Select	ENSP00000392028.1:p.Arg2024_Val2025del
ENST00000423902.6:c.6069_6074del	ENSP00000392028.1:p.Arg2024_Val2025del
ENST00000524602.5:c.1717-9557_1717-9552del	ENSP00000437061.1:n.1717-9557_1717-9552del
NM_001316690.1:c.1717-9557_1717-9552del	NP_001303619.1:n.1717-9557_1717-9552del
NM_017780.3:c.6069_6074del	NP_060250.2:p.Arg2024_Val2025del
XM_011517553.1:c.6159_6164del	XP_011515855.1:p.Arg2054_Val2055del
XM_011517554.1:c.6159_6164del	XP_011515856.1:p.Arg2054_Val2055del
XM_011517555.1:c.6159_6164del	XP_011515857.1:p.Arg2054_Val2055del
XM_011517556.1:c.6159_6164del	XP_011515858.1:p.Arg2054_Val2055del
XM_011517557.1:c.4146_4151del	XP_011515859.1:p.Arg1383_Val1384del
XM_011517558.1:c.3696_3701del	XP_011515860.1:p.Arg1233_Val1234del
XM_011517559.1:c.2904_2909del	XP_011515861.1:p.Arg969_Val970del
XM_011517553.2:c.6159_6164del	XP_011515855.1:p.Arg2054_Val2055del
XM_011517554.3:c.6159_6164del	XP_011515856.1:p.Arg2054_Val2055del
XM_011517555.2:c.6159_6164del	XP_011515857.1:p.Arg2054_Val2055del
XM_017013612.1:c.6159_6164del	XP_016869101.1:p.Arg2054_Val2055del
XM_017013613.1:c.6069_6074del	XP_016869102.1:p.Arg2024_Val2025del
NM_017780.4:c.6069_6074del MANE Select	NP_060250.2:p.Arg2024_Val2025del