Canonical Allele Identifier: CA2499219368

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1095240
• ClinVar RCV Id: RCV001416031
• dbSNP Id: rs2150787035

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60842060_60842061insATTTTTTTTG , CM000670.2:g.60842060_60842061insATTTTTTTTG	GRCh38
NC_000008.10:g.61754619_61754620insATTTTTTTTG , CM000670.1:g.61754619_61754620insATTTTTTTTG	GRCh37
NC_000008.9:g.61917173_61917174insATTTTTTTTG	NCBI36
NG_007009.1:g.168281_168282insATTTTTTTTG , LRG_176:g.168281_168282insATTTTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.4850+8_4850+9insATTTTTTTTG	ENSP00000512218.1:n.4850+8_4850+9insATTTTTTTTG
ENST00000423902.7:c.4850+8_4850+9insATTTTTTTTG MANE Select	ENSP00000392028.1:n.4850+8_4850+9insATTTTTTTTG
ENST00000423902.6:c.4850+8_4850+9insATTTTTTTTG	ENSP00000392028.1:n.4850+8_4850+9insATTTTTTTTG
ENST00000524602.5:c.1717-20169_1717-20168insATTTTTTTTG	ENSP00000437061.1:n.1717-20169_1717-20168insATTTTTTTTG
NM_001316690.1:c.1717-20169_1717-20168insATTTTTTTTG	NP_001303619.1:n.1717-20169_1717-20168insATTTTTTTTG
NM_017780.3:c.4850+8_4850+9insATTTTTTTTG	NP_060250.2:n.4850+8_4850+9insATTTTTTTTG
XM_011517553.1:c.4850+8_4850+9insATTTTTTTTG	XP_011515855.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517554.1:c.4850+8_4850+9insATTTTTTTTG	XP_011515856.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517555.1:c.4850+8_4850+9insATTTTTTTTG	XP_011515857.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517556.1:c.4850+8_4850+9insATTTTTTTTG	XP_011515858.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517557.1:c.2837+8_2837+9insATTTTTTTTG	XP_011515859.1:n.2837+8_2837+9insATTTTTTTTG
XM_011517558.1:c.2387+8_2387+9insATTTTTTTTG	XP_011515860.1:n.2387+8_2387+9insATTTTTTTTG
XM_011517559.1:c.1595+8_1595+9insATTTTTTTTG	XP_011515861.1:n.1595+8_1595+9insATTTTTTTTG
XM_011517560.1:c.4850+8_4850+9insATTTTTTTTG	XP_011515862.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517553.2:c.4850+8_4850+9insATTTTTTTTG	XP_011515855.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517554.3:c.4850+8_4850+9insATTTTTTTTG	XP_011515856.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517555.2:c.4850+8_4850+9insATTTTTTTTG	XP_011515857.1:n.4850+8_4850+9insATTTTTTTTG
XM_011517560.2:c.4850+8_4850+9insATTTTTTTTG	XP_011515862.1:n.4850+8_4850+9insATTTTTTTTG
XM_017013612.1:c.4850+8_4850+9insATTTTTTTTG	XP_016869101.1:n.4850+8_4850+9insATTTTTTTTG
XM_017013613.1:c.4850+8_4850+9insATTTTTTTTG	XP_016869102.1:n.4850+8_4850+9insATTTTTTTTG
NM_017780.4:c.4850+8_4850+9insATTTTTTTTG MANE Select	NP_060250.2:n.4850+8_4850+9insATTTTTTTTG