Canonical Allele Identifier: CA1788134078

Gene: CHD7

Linked Data

• dbSNP Id: rs1805320770

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848731_60848732insTTTTTT , CM000670.2:g.60848731_60848732insTTTTTT	GRCh38
NC_000008.10:g.61761290_61761291insTTTTTT , CM000670.1:g.61761290_61761291insTTTTTT	GRCh37
NC_000008.9:g.61923844_61923845insTTTTTT	NCBI36
NG_007009.1:g.174952_174953insTTTTTT , LRG_176:g.174952_174953insTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5300+127_5300+128insTTTTTT	ENSP00000512218.1:n.5300+127_5300+128insTTTTTT
ENST00000423902.7:c.5300+127_5300+128insTTTTTT MANE Select	ENSP00000392028.1:n.5300+127_5300+128insTTTTTT
ENST00000423902.6:c.5300+127_5300+128insTTTTTT	ENSP00000392028.1:n.5300+127_5300+128insTTTTTT
ENST00000524602.5:c.1717-13498_1717-13497insTTTTTT	ENSP00000437061.1:n.1717-13498_1717-13497insTTTTTT
NM_001316690.1:c.1717-13498_1717-13497insTTTTTT	NP_001303619.1:n.1717-13498_1717-13497insTTTTTT
NM_017780.3:c.5300+127_5300+128insTTTTTT	NP_060250.2:n.5300+127_5300+128insTTTTTT
XM_011517553.1:c.5390+127_5390+128insTTTTTT	XP_011515855.1:n.5390+127_5390+128insTTTTTT
XM_011517554.1:c.5390+127_5390+128insTTTTTT	XP_011515856.1:n.5390+127_5390+128insTTTTTT
XM_011517555.1:c.5390+127_5390+128insTTTTTT	XP_011515857.1:n.5390+127_5390+128insTTTTTT
XM_011517556.1:c.5390+127_5390+128insTTTTTT	XP_011515858.1:n.5390+127_5390+128insTTTTTT
XM_011517557.1:c.3377+127_3377+128insTTTTTT	XP_011515859.1:n.3377+127_3377+128insTTTTTT
XM_011517558.1:c.2927+127_2927+128insTTTTTT	XP_011515860.1:n.2927+127_2927+128insTTTTTT
XM_011517559.1:c.2135+127_2135+128insTTTTTT	XP_011515861.1:n.2135+127_2135+128insTTTTTT
XM_011517553.2:c.5390+127_5390+128insTTTTTT	XP_011515855.1:n.5390+127_5390+128insTTTTTT
XM_011517554.3:c.5390+127_5390+128insTTTTTT	XP_011515856.1:n.5390+127_5390+128insTTTTTT
XM_011517555.2:c.5390+127_5390+128insTTTTTT	XP_011515857.1:n.5390+127_5390+128insTTTTTT
XM_017013612.1:c.5390+127_5390+128insTTTTTT	XP_016869101.1:n.5390+127_5390+128insTTTTTT
XM_017013613.1:c.5300+127_5300+128insTTTTTT	XP_016869102.1:n.5300+127_5300+128insTTTTTT
NM_017780.4:c.5300+127_5300+128insTTTTTT MANE Select	NP_060250.2:n.5300+127_5300+128insTTTTTT