Canonical Allele Identifier: CA645546302

Gene: CHD7

Linked Data

• COSMIC: COSM6113617

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60865174_60865175delinsTT , CM000670.2:g.60865174_60865175delinsTT	GRCh38
NC_000008.10:g.61777733_61777734delinsTT , CM000670.1:g.61777733_61777734delinsTT	GRCh37
NC_000008.9:g.61940287_61940288delinsTT	NCBI36
NG_007009.1:g.191395_191396delinsTT , LRG_176:g.191395_191396delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695850.1:n.1411_1412delinsTT
ENST00000695852.1:n.342_343delinsTT
ENST00000695853.1:c.*1294_*1295delinsTT	ENSP00000512218.1:n.*1294_*1295delinsTT
ENST00000423902.7:c.8235_8236delinsTT MANE Select	ENSP00000392028.1:p.Val2746Leu
ENST00000423902.6:c.8235_8236delinsTT	ENSP00000392028.1:p.Val2746Leu
ENST00000524602.5:c.2088_2089delinsTT	ENSP00000437061.1:p.Val697Leu
ENST00000528280.1:n.281_282delinsTT
NM_001316690.1:c.2088_2089delinsTT	NP_001303619.1:p.Val697Leu
NM_017780.3:c.8235_8236delinsTT	NP_060250.2:p.Val2746Leu
XM_011517553.1:c.8325_8326delinsTT	XP_011515855.1:p.Val2776Leu
XM_011517554.1:c.8325_8326delinsTT	XP_011515856.1:p.Val2776Leu
XM_011517555.1:c.8322_8323delinsTT	XP_011515857.1:p.Val2775Leu
XM_011517556.1:c.8103_8104delinsTT	XP_011515858.1:p.Val2702Leu
XM_011517557.1:c.6312_6313delinsTT	XP_011515859.1:p.Val2105Leu
XM_011517558.1:c.5862_5863delinsTT	XP_011515860.1:p.Val1955Leu
XM_011517559.1:c.5070_5071delinsTT	XP_011515861.1:p.Val1691Leu
XM_011517553.2:c.8325_8326delinsTT	XP_011515855.1:p.Val2776Leu
XM_011517554.3:c.8325_8326delinsTT	XP_011515856.1:p.Val2776Leu
XM_011517555.2:c.8322_8323delinsTT	XP_011515857.1:p.Val2775Leu
XM_017013612.1:c.8325_8326delinsTT	XP_016869101.1:p.Val2776Leu
XM_017013613.1:c.8232_8233delinsTT	XP_016869102.1:p.Val2745Leu
NM_017780.4:c.8235_8236delinsTT MANE Select	NP_060250.2:p.Val2746Leu