Canonical Allele Identifier: CA2535058325

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743015_60743016insCCTTGGTGC , CM000670.2:g.60743015_60743016insCCTTGGTGC	GRCh38
NC_000008.10:g.61655574_61655575insCCTTGGTGC , CM000670.1:g.61655574_61655575insCCTTGGTGC	GRCh37
NC_000008.9:g.61818128_61818129insCCTTGGTGC	NCBI36
NG_007009.1:g.69236_69237insCCTTGGTGC , LRG_176:g.69236_69237insCCTTGGTGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2096_2097insCCTTGGTGC
ENST00000695849.1:n.2096_2097insCCTTGGTGC
ENST00000695853.1:c.1583_1584insCCTTGGTGC	ENSP00000512218.1:p.Ser528_Pro529insLeuGlyAla
ENST00000700671.1:c.1583_1584insCCTTGGTGC	ENSP00000515139.1:p.Ser528_Pro529insLeuGlyAla
ENST00000423902.7:c.1583_1584insCCTTGGTGC MANE Select	ENSP00000392028.1:p.Ser528_Pro529insLeuGlyAla
ENST00000423902.6:c.1583_1584insCCTTGGTGC	ENSP00000392028.1:p.Ser528_Pro529insLeuGlyAla
ENST00000524602.5:c.1583_1584insCCTTGGTGC	ENSP00000437061.1:p.Ser528_Pro529insLeuGlyAla
ENST00000525508.1:c.1583_1584insCCTTGGTGC	ENSP00000436027.1:p.Ser528_Pro529insLeuGlyAla
ENST00000527825.1:c.227_228insCCTTGGTGC
NM_001316690.1:c.1583_1584insCCTTGGTGC	NP_001303619.1:p.Ser528_Pro529insLeuGlyAla
NM_017780.3:c.1583_1584insCCTTGGTGC	NP_060250.2:p.Ser528_Pro529insLeuGlyAla
XM_011517553.1:c.1583_1584insCCTTGGTGC	XP_011515855.1:p.Ser528_Pro529insLeuGlyAla
XM_011517554.1:c.1583_1584insCCTTGGTGC	XP_011515856.1:p.Ser528_Pro529insLeuGlyAla
XM_011517555.1:c.1583_1584insCCTTGGTGC	XP_011515857.1:p.Ser528_Pro529insLeuGlyAla
XM_011517556.1:c.1583_1584insCCTTGGTGC	XP_011515858.1:p.Ser528_Pro529insLeuGlyAla
XM_011517560.1:c.1583_1584insCCTTGGTGC	XP_011515862.1:p.Ser528_Pro529insLeuGlyAla
XM_011517553.2:c.1583_1584insCCTTGGTGC	XP_011515855.1:p.Ser528_Pro529insLeuGlyAla
XM_011517554.3:c.1583_1584insCCTTGGTGC	XP_011515856.1:p.Ser528_Pro529insLeuGlyAla
XM_011517555.2:c.1583_1584insCCTTGGTGC	XP_011515857.1:p.Ser528_Pro529insLeuGlyAla
XM_011517560.2:c.1583_1584insCCTTGGTGC	XP_011515862.1:p.Ser528_Pro529insLeuGlyAla
XM_017013612.1:c.1583_1584insCCTTGGTGC	XP_016869101.1:p.Ser528_Pro529insLeuGlyAla
XM_017013613.1:c.1583_1584insCCTTGGTGC	XP_016869102.1:p.Ser528_Pro529insLeuGlyAla
NM_017780.4:c.1583_1584insCCTTGGTGC MANE Select	NP_060250.2:p.Ser528_Pro529insLeuGlyAla