Canonical Allele Identifier: CA2687395658

Gene: CHD7

Linked Data

• gnomAD v4: 8-60795140-T-TTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60795142_60795143insCTG , CM000670.2:g.60795142_60795143insCTG	GRCh38
NC_000008.10:g.61707701_61707702insCTG , CM000670.1:g.61707701_61707702insCTG	GRCh37
NC_000008.9:g.61870255_61870256insCTG	NCBI36
NG_007009.1:g.121363_121364insCTG , LRG_176:g.121363_121364insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2751+15_2751+16insCTG
ENST00000695849.1:n.2751+15_2751+16insCTG
ENST00000695853.1:c.2238+15_2238+16insCTG	ENSP00000512218.1:n.2238+15_2238+16insCTG
ENST00000423902.7:c.2238+15_2238+16insCTG MANE Select	ENSP00000392028.1:n.2238+15_2238+16insCTG
ENST00000423902.6:c.2238+15_2238+16insCTG	ENSP00000392028.1:n.2238+15_2238+16insCTG
ENST00000524602.5:c.1716+14092_1716+14093insCTG	ENSP00000437061.1:n.1716+14092_1716+14093insCTG
ENST00000525508.1:c.2238+15_2238+16insCTG	ENSP00000436027.1:n.2238+15_2238+16insCTG
ENST00000527900.1:c.259+15_259+16insCTG	ENSP00000433336.1:n.259+15_259+16insCTG
NM_001316690.1:c.1716+14092_1716+14093insCTG	NP_001303619.1:n.1716+14092_1716+14093insCTG
NM_017780.3:c.2238+15_2238+16insCTG	NP_060250.2:n.2238+15_2238+16insCTG
XM_011517553.1:c.2238+15_2238+16insCTG	XP_011515855.1:n.2238+15_2238+16insCTG
XM_011517554.1:c.2238+15_2238+16insCTG	XP_011515856.1:n.2238+15_2238+16insCTG
XM_011517555.1:c.2238+15_2238+16insCTG	XP_011515857.1:n.2238+15_2238+16insCTG
XM_011517556.1:c.2238+15_2238+16insCTG	XP_011515858.1:n.2238+15_2238+16insCTG
XM_011517557.1:c.225+15_225+16insCTG	XP_011515859.1:n.225+15_225+16insCTG
XM_011517560.1:c.2238+15_2238+16insCTG	XP_011515862.1:n.2238+15_2238+16insCTG
XM_011517553.2:c.2238+15_2238+16insCTG	XP_011515855.1:n.2238+15_2238+16insCTG
XM_011517554.3:c.2238+15_2238+16insCTG	XP_011515856.1:n.2238+15_2238+16insCTG
XM_011517555.2:c.2238+15_2238+16insCTG	XP_011515857.1:n.2238+15_2238+16insCTG
XM_011517560.2:c.2238+15_2238+16insCTG	XP_011515862.1:n.2238+15_2238+16insCTG
XM_017013612.1:c.2238+15_2238+16insCTG	XP_016869101.1:n.2238+15_2238+16insCTG
XM_017013613.1:c.2238+15_2238+16insCTG	XP_016869102.1:n.2238+15_2238+16insCTG
NM_017780.4:c.2238+15_2238+16insCTG MANE Select	NP_060250.2:n.2238+15_2238+16insCTG