Canonical Allele Identifier: CA2846182881

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848497_60848498insA , CM000670.2:g.60848497_60848498insA	GRCh38
NC_000008.10:g.61761056_61761057insA , CM000670.1:g.61761056_61761057insA	GRCh37
NC_000008.9:g.61923610_61923611insA	NCBI36
NG_007009.1:g.174718_174719insA , LRG_176:g.174718_174719insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5211-18_5211-17insA	ENSP00000512218.1:n.5211-18_5211-17insA
ENST00000423902.7:c.5211-18_5211-17insA MANE Select	ENSP00000392028.1:n.5211-18_5211-17insA
ENST00000423902.6:c.5211-18_5211-17insA	ENSP00000392028.1:n.5211-18_5211-17insA
ENST00000524602.5:c.1717-13732_1717-13731insA	ENSP00000437061.1:n.1717-13732_1717-13731insA
NM_001316690.1:c.1717-13732_1717-13731insA	NP_001303619.1:n.1717-13732_1717-13731insA
NM_017780.3:c.5211-18_5211-17insA	NP_060250.2:n.5211-18_5211-17insA
XM_011517553.1:c.5301-18_5301-17insA	XP_011515855.1:n.5301-18_5301-17insA
XM_011517554.1:c.5301-18_5301-17insA	XP_011515856.1:n.5301-18_5301-17insA
XM_011517555.1:c.5301-18_5301-17insA	XP_011515857.1:n.5301-18_5301-17insA
XM_011517556.1:c.5301-18_5301-17insA	XP_011515858.1:n.5301-18_5301-17insA
XM_011517557.1:c.3288-18_3288-17insA	XP_011515859.1:n.3288-18_3288-17insA
XM_011517558.1:c.2838-18_2838-17insA	XP_011515860.1:n.2838-18_2838-17insA
XM_011517559.1:c.2046-18_2046-17insA	XP_011515861.1:n.2046-18_2046-17insA
XM_011517553.2:c.5301-18_5301-17insA	XP_011515855.1:n.5301-18_5301-17insA
XM_011517554.3:c.5301-18_5301-17insA	XP_011515856.1:n.5301-18_5301-17insA
XM_011517555.2:c.5301-18_5301-17insA	XP_011515857.1:n.5301-18_5301-17insA
XM_017013612.1:c.5301-18_5301-17insA	XP_016869101.1:n.5301-18_5301-17insA
XM_017013613.1:c.5211-18_5211-17insA	XP_016869102.1:n.5211-18_5211-17insA
NM_017780.4:c.5211-18_5211-17insA MANE Select	NP_060250.2:n.5211-18_5211-17insA