Canonical Allele Identifier: CA2695209434

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853377_60853381del , CM000670.2:g.60853377_60853381del	GRCh38
NC_000008.10:g.61765936_61765940del , CM000670.1:g.61765936_61765940del	GRCh37
NC_000008.9:g.61928490_61928494del	NCBI36
NG_007009.1:g.179598_179602del , LRG_176:g.179598_179602del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6652_6656del	ENSP00000512218.1:p.Leu2218ArgfsTer3
ENST00000423902.7:c.6652_6656del MANE Select	ENSP00000392028.1:p.Leu2218ArgfsTer3
ENST00000423902.6:c.6652_6656del	ENSP00000392028.1:p.Leu2218ArgfsTer3
ENST00000524602.5:c.1717-8852_1717-8848del	ENSP00000437061.1:n.1717-8852_1717-8848del
NM_001316690.1:c.1717-8852_1717-8848del	NP_001303619.1:n.1717-8852_1717-8848del
NM_017780.3:c.6652_6656del	NP_060250.2:p.Leu2218ArgfsTer3
XM_011517553.1:c.6742_6746del	XP_011515855.1:p.Leu2248ArgfsTer3
XM_011517554.1:c.6742_6746del	XP_011515856.1:p.Leu2248ArgfsTer3
XM_011517555.1:c.6742_6746del	XP_011515857.1:p.Leu2248ArgfsTer3
XM_011517556.1:c.6742_6746del	XP_011515858.1:p.Leu2248ArgfsTer3
XM_011517557.1:c.4729_4733del	XP_011515859.1:p.Leu1577ArgfsTer3
XM_011517558.1:c.4279_4283del	XP_011515860.1:p.Leu1427ArgfsTer3
XM_011517559.1:c.3487_3491del	XP_011515861.1:p.Leu1163ArgfsTer3
XM_011517553.2:c.6742_6746del	XP_011515855.1:p.Leu2248ArgfsTer3
XM_011517554.3:c.6742_6746del	XP_011515856.1:p.Leu2248ArgfsTer3
XM_011517555.2:c.6742_6746del	XP_011515857.1:p.Leu2248ArgfsTer3
XM_017013612.1:c.6742_6746del	XP_016869101.1:p.Leu2248ArgfsTer3
XM_017013613.1:c.6652_6656del	XP_016869102.1:p.Leu2218ArgfsTer3
NM_017780.4:c.6652_6656del MANE Select	NP_060250.2:p.Leu2218ArgfsTer3