Canonical Allele Identifier: CA1788130412

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865437_60865440delinsAAGG , CM000670.2:g.60865437_60865440delinsAAGG	GRCh38
NC_000008.10:g.61777996_61777999delinsAAGG , CM000670.1:g.61777996_61777999delinsAAGG	GRCh37
NC_000008.9:g.61940550_61940553delinsAAGG	NCBI36
NG_007009.1:g.191658_191661delinsAAGG , LRG_176:g.191658_191661delinsAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1674_1677delinsAAGG
ENST00000695852.1:n.605_608delinsAAGG
ENST00000695853.1:c.*1557_*1560delinsAAGG	ENSP00000512218.1:n.*1557_*1560delinsAAGG
ENST00000423902.7:c.8498_8501delinsAAGG MANE Select	ENSP00000392028.1:p.Gln2833=
ENST00000423902.6:c.8498_8501delinsAAGG	ENSP00000392028.1:p.Gln2833=
ENST00000524602.5:c.2351_2354delinsAAGG	ENSP00000437061.1:p.Gln784=
ENST00000528280.1:n.544_547delinsAAGG
NM_001316690.1:c.2351_2354delinsAAGG	NP_001303619.1:p.Gln784=
NM_017780.3:c.8498_8501delinsAAGG	NP_060250.2:p.Gln2833=
XM_011517553.1:c.8588_8591delinsAAGG	XP_011515855.1:p.Gln2863=
XM_011517554.1:c.8588_8591delinsAAGG	XP_011515856.1:p.Gln2863=
XM_011517555.1:c.8585_8588delinsAAGG	XP_011515857.1:p.Gln2862=
XM_011517556.1:c.8366_8369delinsAAGG	XP_011515858.1:p.Gln2789=
XM_011517557.1:c.6575_6578delinsAAGG	XP_011515859.1:p.Gln2192=
XM_011517558.1:c.6125_6128delinsAAGG	XP_011515860.1:p.Gln2042=
XM_011517559.1:c.5333_5336delinsAAGG	XP_011515861.1:p.Gln1778=
XM_011517553.2:c.8588_8591delinsAAGG	XP_011515855.1:p.Gln2863=
XM_011517554.3:c.8588_8591delinsAAGG	XP_011515856.1:p.Gln2863=
XM_011517555.2:c.8585_8588delinsAAGG	XP_011515857.1:p.Gln2862=
XM_017013612.1:c.8588_8591delinsAAGG	XP_016869101.1:p.Gln2863=
XM_017013613.1:c.8495_8498delinsAAGG	XP_016869102.1:p.Gln2832=
NM_017780.4:c.8498_8501delinsAAGG MANE Select	NP_060250.2:p.Gln2833=