Canonical Allele Identifier: CA2687401589

Gene: CHD7

Linked Data

• gnomAD v4: 8-60845187-C-CAATGACACTATAATATAG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845187_60845188insAATGACACTATAATATAG , CM000670.2:g.60845187_60845188insAATGACACTATAATATAG	GRCh38
NC_000008.10:g.61757746_61757747insAATGACACTATAATATAG , CM000670.1:g.61757746_61757747insAATGACACTATAATATAG	GRCh37
NC_000008.9:g.61920300_61920301insAATGACACTATAATATAG	NCBI36
NG_007009.1:g.171408_171409insAATGACACTATAATATAG , LRG_176:g.171408_171409insAATGACACTATAATATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5051-63_5051-62insAATGACACTATAATATAG	ENSP00000512218.1:n.5051-63_5051-62insAATGACACTATAATATAG
ENST00000423902.7:c.5051-63_5051-62insAATGACACTATAATATAG MANE Select	ENSP00000392028.1:n.5051-63_5051-62insAATGACACTATAATATAG
ENST00000423902.6:c.5051-63_5051-62insAATGACACTATAATATAG	ENSP00000392028.1:n.5051-63_5051-62insAATGACACTATAATATAG
ENST00000524602.5:c.1717-17042_1717-17041insAATGACACTATAATATAG	ENSP00000437061.1:n.1717-17042_1717-17041insAATGACACTATAATATA...
NM_001316690.1:c.1717-17042_1717-17041insAATGACACTATAATATAG	NP_001303619.1:n.1717-17042_1717-17041insAATGACACTATAATATAG
NM_017780.3:c.5051-63_5051-62insAATGACACTATAATATAG	NP_060250.2:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517553.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515855.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517554.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515856.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517555.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515857.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517556.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515858.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517557.1:c.3038-63_3038-62insAATGACACTATAATATAG	XP_011515859.1:n.3038-63_3038-62insAATGACACTATAATATAG
XM_011517558.1:c.2588-63_2588-62insAATGACACTATAATATAG	XP_011515860.1:n.2588-63_2588-62insAATGACACTATAATATAG
XM_011517559.1:c.1796-63_1796-62insAATGACACTATAATATAG	XP_011515861.1:n.1796-63_1796-62insAATGACACTATAATATAG
XM_011517553.2:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515855.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517554.3:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515856.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_011517555.2:c.5051-63_5051-62insAATGACACTATAATATAG	XP_011515857.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_017013612.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_016869101.1:n.5051-63_5051-62insAATGACACTATAATATAG
XM_017013613.1:c.5051-63_5051-62insAATGACACTATAATATAG	XP_016869102.1:n.5051-63_5051-62insAATGACACTATAATATAG
NM_017780.4:c.5051-63_5051-62insAATGACACTATAATATAG MANE Select	NP_060250.2:n.5051-63_5051-62insAATGACACTATAATATAG