Canonical Allele Identifier: CA1788104299

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853249_60853250delinsTG , CM000670.2:g.60853249_60853250delinsTG	GRCh38
NC_000008.10:g.61765808_61765809delinsTG , CM000670.1:g.61765808_61765809delinsTG	GRCh37
NC_000008.9:g.61928362_61928363delinsTG	NCBI36
NG_007009.1:g.179470_179471delinsTG , LRG_176:g.179470_179471delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6524_6525delinsTG	ENSP00000512218.1:p.Val2175=
ENST00000423902.7:c.6524_6525delinsTG MANE Select	ENSP00000392028.1:p.Val2175=
ENST00000423902.6:c.6524_6525delinsTG	ENSP00000392028.1:p.Val2175=
ENST00000524602.5:c.1717-8980_1717-8979delinsTG	ENSP00000437061.1:n.1717-8980_1717-8979delinsTG
NM_001316690.1:c.1717-8980_1717-8979delinsTG	NP_001303619.1:n.1717-8980_1717-8979delinsTG
NM_017780.3:c.6524_6525delinsTG	NP_060250.2:p.Val2175=
XM_011517553.1:c.6614_6615delinsTG	XP_011515855.1:p.Val2205=
XM_011517554.1:c.6614_6615delinsTG	XP_011515856.1:p.Val2205=
XM_011517555.1:c.6614_6615delinsTG	XP_011515857.1:p.Val2205=
XM_011517556.1:c.6614_6615delinsTG	XP_011515858.1:p.Val2205=
XM_011517557.1:c.4601_4602delinsTG	XP_011515859.1:p.Val1534=
XM_011517558.1:c.4151_4152delinsTG	XP_011515860.1:p.Val1384=
XM_011517559.1:c.3359_3360delinsTG	XP_011515861.1:p.Val1120=
XM_011517553.2:c.6614_6615delinsTG	XP_011515855.1:p.Val2205=
XM_011517554.3:c.6614_6615delinsTG	XP_011515856.1:p.Val2205=
XM_011517555.2:c.6614_6615delinsTG	XP_011515857.1:p.Val2205=
XM_017013612.1:c.6614_6615delinsTG	XP_016869101.1:p.Val2205=
XM_017013613.1:c.6524_6525delinsTG	XP_016869102.1:p.Val2175=
NM_017780.4:c.6524_6525delinsTG MANE Select	NP_060250.2:p.Val2175=