Canonical Allele Identifier: CA16042755

Gene: CHD7

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845376_60845389delinsT , CM000670.2:g.60845376_60845389delinsT	GRCh38
NC_000008.10:g.61757935_61757948delinsT , CM000670.1:g.61757935_61757948delinsT	GRCh37
NC_000008.9:g.61920489_61920502delinsT	NCBI36
NG_007009.1:g.171597_171610delinsT , LRG_176:g.171597_171610delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5177_5190delinsT	ENSP00000512218.1:p.Ser1726IlefsTer2
ENST00000423902.7:c.5177_5190delinsT MANE Select	ENSP00000392028.1:p.Ser1726IlefsTer2
ENST00000423902.6:c.5177_5190delinsT	ENSP00000392028.1:p.Ser1726IlefsTer2
ENST00000524602.5:c.1717-16853_1717-16840delinsT	ENSP00000437061.1:n.1717-16853_1717-16840delinsT
NM_001316690.1:c.1717-16853_1717-16840delinsT	NP_001303619.1:n.1717-16853_1717-16840delinsT
NM_017780.3:c.5177_5190delinsT	NP_060250.2:p.Ser1726IlefsTer2
XM_011517553.1:c.5177_5190delinsT	XP_011515855.1:p.Ser1726IlefsTer2
XM_011517554.1:c.5177_5190delinsT	XP_011515856.1:p.Ser1726IlefsTer2
XM_011517555.1:c.5177_5190delinsT	XP_011515857.1:p.Ser1726IlefsTer2
XM_011517556.1:c.5177_5190delinsT	XP_011515858.1:p.Ser1726IlefsTer2
XM_011517557.1:c.3164_3177delinsT	XP_011515859.1:p.Ser1055IlefsTer2
XM_011517558.1:c.2714_2727delinsT	XP_011515860.1:p.Ser905IlefsTer2
XM_011517559.1:c.1922_1935delinsT	XP_011515861.1:p.Ser641IlefsTer2
XM_011517553.2:c.5177_5190delinsT	XP_011515855.1:p.Ser1726IlefsTer2
XM_011517554.3:c.5177_5190delinsT	XP_011515856.1:p.Ser1726IlefsTer2
XM_011517555.2:c.5177_5190delinsT	XP_011515857.1:p.Ser1726IlefsTer2
XM_017013612.1:c.5177_5190delinsT	XP_016869101.1:p.Ser1726IlefsTer2
XM_017013613.1:c.5177_5190delinsT	XP_016869102.1:p.Ser1726IlefsTer2
NM_017780.4:c.5177_5190delinsT MANE Select	NP_060250.2:p.Ser1726IlefsTer2