Canonical Allele Identifier: CA2695209721

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60845336_60845337insCAGC , CM000670.2:g.60845336_60845337insCAGC	GRCh38
NC_000008.10:g.61757895_61757896insCAGC , CM000670.1:g.61757895_61757896insCAGC	GRCh37
NC_000008.9:g.61920449_61920450insCAGC	NCBI36
NG_007009.1:g.171557_171558insCAGC , LRG_176:g.171557_171558insCAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5137_5138insCAGC	ENSP00000512218.1:p.Leu1713ProfsTer25
ENST00000423902.7:c.5137_5138insCAGC MANE Select	ENSP00000392028.1:p.Leu1713ProfsTer25
ENST00000423902.6:c.5137_5138insCAGC	ENSP00000392028.1:p.Leu1713ProfsTer25
ENST00000524602.5:c.1717-16893_1717-16892insCAGC	ENSP00000437061.1:n.1717-16893_1717-16892insCAGC
NM_001316690.1:c.1717-16893_1717-16892insCAGC	NP_001303619.1:n.1717-16893_1717-16892insCAGC
NM_017780.3:c.5137_5138insCAGC	NP_060250.2:p.Leu1713ProfsTer25
XM_011517553.1:c.5137_5138insCAGC	XP_011515855.1:p.Leu1713ProfsTer25
XM_011517554.1:c.5137_5138insCAGC	XP_011515856.1:p.Leu1713ProfsTer25
XM_011517555.1:c.5137_5138insCAGC	XP_011515857.1:p.Leu1713ProfsTer25
XM_011517556.1:c.5137_5138insCAGC	XP_011515858.1:p.Leu1713ProfsTer25
XM_011517557.1:c.3124_3125insCAGC	XP_011515859.1:p.Leu1042ProfsTer25
XM_011517558.1:c.2674_2675insCAGC	XP_011515860.1:p.Leu892ProfsTer25
XM_011517559.1:c.1882_1883insCAGC	XP_011515861.1:p.Leu628ProfsTer25
XM_011517553.2:c.5137_5138insCAGC	XP_011515855.1:p.Leu1713ProfsTer25
XM_011517554.3:c.5137_5138insCAGC	XP_011515856.1:p.Leu1713ProfsTer25
XM_011517555.2:c.5137_5138insCAGC	XP_011515857.1:p.Leu1713ProfsTer25
XM_017013612.1:c.5137_5138insCAGC	XP_016869101.1:p.Leu1713ProfsTer25
XM_017013613.1:c.5137_5138insCAGC	XP_016869102.1:p.Leu1713ProfsTer25
NM_017780.4:c.5137_5138insCAGC MANE Select	NP_060250.2:p.Leu1713ProfsTer25