Canonical Allele Identifier: CA10602506

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865669_60865670del , CM000670.2:g.60865669_60865670del	GRCh38
NC_000008.10:g.61778228_61778229del , CM000670.1:g.61778228_61778229del	GRCh37
NC_000008.9:g.61940782_61940783del	NCBI36
NG_007009.1:g.191890_191891del , LRG_176:g.191890_191891del

Transcript Alleles

HGVS	Amino-acid Change
NM_017780.4:c.8730_8731del MANE Select	NP_060250.2:p.Pro2911ArgfsTer29
ENST00000423902.7:c.8730_8731del MANE Select	ENSP00000392028.1:p.Pro2911ArgfsTer29
NM_001316690.1:c.2583_2584del	NP_001303619.1:p.Pro862ArgfsTer29
NM_017780.3:c.8730_8731del	NP_060250.2:p.Pro2911ArgfsTer29
ENST00000423902.6:c.8730_8731del	ENSP00000392028.1:p.Pro2911ArgfsTer29
ENST00000524602.5:c.2583_2584del	ENSP00000437061.1:p.Pro862ArgfsTer29
ENST00000695850.1:n.1906_1907del
ENST00000695852.1:n.837_838del
ENST00000695853.1:c.*1789_*1790del	ENSP00000512218.1:n.*1789_*1790del
XM_011517553.1:c.8820_8821del	XP_011515855.1:p.Pro2941ArgfsTer29
XM_011517553.2:c.8820_8821del	XP_011515855.1:p.Pro2941ArgfsTer29
XM_011517554.1:c.8820_8821del	XP_011515856.1:p.Pro2941ArgfsTer29
XM_011517554.3:c.8820_8821del	XP_011515856.1:p.Pro2941ArgfsTer29
XM_011517555.1:c.8817_8818del	XP_011515857.1:p.Pro2940ArgfsTer29
XM_011517555.2:c.8817_8818del	XP_011515857.1:p.Pro2940ArgfsTer29
XM_011517556.1:c.8598_8599del	XP_011515858.1:p.Pro2867ArgfsTer29
XM_011517557.1:c.6807_6808del	XP_011515859.1:p.Pro2270ArgfsTer29
XM_011517558.1:c.6357_6358del	XP_011515860.1:p.Pro2120ArgfsTer29
XM_011517559.1:c.5565_5566del	XP_011515861.1:p.Pro1856ArgfsTer29
XM_017013612.1:c.8820_8821del	XP_016869101.1:p.Pro2941ArgfsTer29
XM_017013613.1:c.8727_8728del	XP_016869102.1:p.Pro2910ArgfsTer29