Canonical Allele Identifier: CA2687402219

Gene: CHD7

Linked Data

• gnomAD v4: 8-60848494-C-CTGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848494_60848495insTGAA , CM000670.2:g.60848494_60848495insTGAA	GRCh38
NC_000008.10:g.61761053_61761054insTGAA , CM000670.1:g.61761053_61761054insTGAA	GRCh37
NC_000008.9:g.61923607_61923608insTGAA	NCBI36
NG_007009.1:g.174715_174716insTGAA , LRG_176:g.174715_174716insTGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5211-21_5211-20insTGAA	ENSP00000512218.1:n.5211-21_5211-20insTGAA
ENST00000423902.7:c.5211-21_5211-20insTGAA MANE Select	ENSP00000392028.1:n.5211-21_5211-20insTGAA
ENST00000423902.6:c.5211-21_5211-20insTGAA	ENSP00000392028.1:n.5211-21_5211-20insTGAA
ENST00000524602.5:c.1717-13735_1717-13734insTGAA	ENSP00000437061.1:n.1717-13735_1717-13734insTGAA
NM_001316690.1:c.1717-13735_1717-13734insTGAA	NP_001303619.1:n.1717-13735_1717-13734insTGAA
NM_017780.3:c.5211-21_5211-20insTGAA	NP_060250.2:n.5211-21_5211-20insTGAA
XM_011517553.1:c.5301-21_5301-20insTGAA	XP_011515855.1:n.5301-21_5301-20insTGAA
XM_011517554.1:c.5301-21_5301-20insTGAA	XP_011515856.1:n.5301-21_5301-20insTGAA
XM_011517555.1:c.5301-21_5301-20insTGAA	XP_011515857.1:n.5301-21_5301-20insTGAA
XM_011517556.1:c.5301-21_5301-20insTGAA	XP_011515858.1:n.5301-21_5301-20insTGAA
XM_011517557.1:c.3288-21_3288-20insTGAA	XP_011515859.1:n.3288-21_3288-20insTGAA
XM_011517558.1:c.2838-21_2838-20insTGAA	XP_011515860.1:n.2838-21_2838-20insTGAA
XM_011517559.1:c.2046-21_2046-20insTGAA	XP_011515861.1:n.2046-21_2046-20insTGAA
XM_011517553.2:c.5301-21_5301-20insTGAA	XP_011515855.1:n.5301-21_5301-20insTGAA
XM_011517554.3:c.5301-21_5301-20insTGAA	XP_011515856.1:n.5301-21_5301-20insTGAA
XM_011517555.2:c.5301-21_5301-20insTGAA	XP_011515857.1:n.5301-21_5301-20insTGAA
XM_017013612.1:c.5301-21_5301-20insTGAA	XP_016869101.1:n.5301-21_5301-20insTGAA
XM_017013613.1:c.5211-21_5211-20insTGAA	XP_016869102.1:n.5211-21_5211-20insTGAA
NM_017780.4:c.5211-21_5211-20insTGAA MANE Select	NP_060250.2:n.5211-21_5211-20insTGAA