Canonical Allele Identifier: CA1788128330

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845128_60845130delinsCTG , CM000670.2:g.60845128_60845130delinsCTG	GRCh38
NC_000008.10:g.61757687_61757689delinsCTG , CM000670.1:g.61757687_61757689delinsCTG	GRCh37
NC_000008.9:g.61920241_61920243delinsCTG	NCBI36
NG_007009.1:g.171349_171351delinsCTG , LRG_176:g.171349_171351delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5050+65_5050+67delinsCTG	ENSP00000512218.1:n.5050+65_5050+67delinsCTG
ENST00000423902.7:c.5050+65_5050+67delinsCTG MANE Select	ENSP00000392028.1:n.5050+65_5050+67delinsCTG
ENST00000423902.6:c.5050+65_5050+67delinsCTG	ENSP00000392028.1:n.5050+65_5050+67delinsCTG
ENST00000524602.5:c.1717-17101_1717-17099delinsCTG	ENSP00000437061.1:n.1717-17101_1717-17099delinsCTG
NM_001316690.1:c.1717-17101_1717-17099delinsCTG	NP_001303619.1:n.1717-17101_1717-17099delinsCTG
NM_017780.3:c.5050+65_5050+67delinsCTG	NP_060250.2:n.5050+65_5050+67delinsCTG
XM_011517553.1:c.5050+65_5050+67delinsCTG	XP_011515855.1:n.5050+65_5050+67delinsCTG
XM_011517554.1:c.5050+65_5050+67delinsCTG	XP_011515856.1:n.5050+65_5050+67delinsCTG
XM_011517555.1:c.5050+65_5050+67delinsCTG	XP_011515857.1:n.5050+65_5050+67delinsCTG
XM_011517556.1:c.5050+65_5050+67delinsCTG	XP_011515858.1:n.5050+65_5050+67delinsCTG
XM_011517557.1:c.3037+65_3037+67delinsCTG	XP_011515859.1:n.3037+65_3037+67delinsCTG
XM_011517558.1:c.2587+65_2587+67delinsCTG	XP_011515860.1:n.2587+65_2587+67delinsCTG
XM_011517559.1:c.1795+65_1795+67delinsCTG	XP_011515861.1:n.1795+65_1795+67delinsCTG
XM_011517553.2:c.5050+65_5050+67delinsCTG	XP_011515855.1:n.5050+65_5050+67delinsCTG
XM_011517554.3:c.5050+65_5050+67delinsCTG	XP_011515856.1:n.5050+65_5050+67delinsCTG
XM_011517555.2:c.5050+65_5050+67delinsCTG	XP_011515857.1:n.5050+65_5050+67delinsCTG
XM_017013612.1:c.5050+65_5050+67delinsCTG	XP_016869101.1:n.5050+65_5050+67delinsCTG
XM_017013613.1:c.5050+65_5050+67delinsCTG	XP_016869102.1:n.5050+65_5050+67delinsCTG
NM_017780.4:c.5050+65_5050+67delinsCTG MANE Select	NP_060250.2:n.5050+65_5050+67delinsCTG