Canonical Allele Identifier: CA2687402667

Gene: CHD7

Linked Data

• gnomAD v4: 8-60849034-T-TTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60849034_60849035insTTAA , CM000670.2:g.60849034_60849035insTTAA	GRCh38
NC_000008.10:g.61761593_61761594insTTAA , CM000670.1:g.61761593_61761594insTTAA	GRCh37
NC_000008.9:g.61924147_61924148insTTAA	NCBI36
NG_007009.1:g.175255_175256insTTAA , LRG_176:g.175255_175256insTTAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.5301-17_5301-16insTTAA	ENSP00000512218.1:n.5301-17_5301-16insTTA...
ENST00000423902.7:c.5301-17_5301-16insTTAA MANE Select	ENSP00000392028.1:n.5301-17_5301-16insTTA...
ENST00000423902.6:c.5301-17_5301-16insTTAA	ENSP00000392028.1:n.5301-17_5301-16insTTA...
ENST00000524602.5:c.1717-13195_1717-13194insTTAA	ENSP00000437061.1:n.1717-13195_1717-13194...
NM_001316690.1:c.1717-13195_1717-13194insTTAA	NP_001303619.1:n.1717-13195_1717-13194ins...
NM_017780.3:c.5301-17_5301-16insTTAA	NP_060250.2:n.5301-17_5301-16insTTAA
XM_011517553.1:c.5391-17_5391-16insTTAA	XP_011515855.1:n.5391-17_5391-16insTTAA
XM_011517554.1:c.5391-17_5391-16insTTAA	XP_011515856.1:n.5391-17_5391-16insTTAA
XM_011517555.1:c.5391-17_5391-16insTTAA	XP_011515857.1:n.5391-17_5391-16insTTAA
XM_011517556.1:c.5391-17_5391-16insTTAA	XP_011515858.1:n.5391-17_5391-16insTTAA
XM_011517557.1:c.3378-17_3378-16insTTAA	XP_011515859.1:n.3378-17_3378-16insTTAA
XM_011517558.1:c.2928-17_2928-16insTTAA	XP_011515860.1:n.2928-17_2928-16insTTAA
XM_011517559.1:c.2136-17_2136-16insTTAA	XP_011515861.1:n.2136-17_2136-16insTTAA
XM_011517553.2:c.5391-17_5391-16insTTAA	XP_011515855.1:n.5391-17_5391-16insTTAA
XM_011517554.3:c.5391-17_5391-16insTTAA	XP_011515856.1:n.5391-17_5391-16insTTAA
XM_011517555.2:c.5391-17_5391-16insTTAA	XP_011515857.1:n.5391-17_5391-16insTTAA
XM_017013612.1:c.5391-17_5391-16insTTAA	XP_016869101.1:n.5391-17_5391-16insTTAA
XM_017013613.1:c.5301-17_5301-16insTTAA	XP_016869102.1:n.5301-17_5301-16insTTAA
NM_017780.4:c.5301-17_5301-16insTTAA MANE Select	NP_060250.2:n.5301-17_5301-16insTTAA