Canonical Allele Identifier: CA2780535063

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853112_60853113insCCAAACACACCCAACAC , CM000670.2:g.60853112_60853113insCCAAACACACCCAACAC	GRCh38
NC_000008.10:g.61765671_61765672insCCAAACACACCCAACAC , CM000670.1:g.61765671_61765672insCCAAACACACCCAACAC	GRCh37
NC_000008.9:g.61928225_61928226insCCAAACACACCCAACAC	NCBI36
NG_007009.1:g.179333_179334insCCAAACACACCCAACAC , LRG_176:g.179333_179334insCCAAACACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6387_6388insCCAAACACACCCAACAC	ENSP00000512218.1:p.Asn2130ProfsTer20
ENST00000423902.7:c.6387_6388insCCAAACACACCCAACAC MANE Select	ENSP00000392028.1:p.Asn2130ProfsTer20
ENST00000423902.6:c.6387_6388insCCAAACACACCCAACAC	ENSP00000392028.1:p.Asn2130ProfsTer20
ENST00000524602.5:c.1717-9117_1717-9116insCCAAACACACCCAACAC	ENSP00000437061.1:n.1717-9117_1717-9116insCCAAACACACCCAACAC
NM_001316690.1:c.1717-9117_1717-9116insCCAAACACACCCAACAC	NP_001303619.1:n.1717-9117_1717-9116insCCAAACACACCCAACAC
NM_017780.3:c.6387_6388insCCAAACACACCCAACAC	NP_060250.2:p.Asn2130ProfsTer20
XM_011517553.1:c.6477_6478insCCAAACACACCCAACAC	XP_011515855.1:p.Asn2160ProfsTer20
XM_011517554.1:c.6477_6478insCCAAACACACCCAACAC	XP_011515856.1:p.Asn2160ProfsTer20
XM_011517555.1:c.6477_6478insCCAAACACACCCAACAC	XP_011515857.1:p.Asn2160ProfsTer20
XM_011517556.1:c.6477_6478insCCAAACACACCCAACAC	XP_011515858.1:p.Asn2160ProfsTer20
XM_011517557.1:c.4464_4465insCCAAACACACCCAACAC	XP_011515859.1:p.Asn1489ProfsTer20
XM_011517558.1:c.4014_4015insCCAAACACACCCAACAC	XP_011515860.1:p.Asn1339ProfsTer20
XM_011517559.1:c.3222_3223insCCAAACACACCCAACAC	XP_011515861.1:p.Asn1075ProfsTer20
XM_011517553.2:c.6477_6478insCCAAACACACCCAACAC	XP_011515855.1:p.Asn2160ProfsTer20
XM_011517554.3:c.6477_6478insCCAAACACACCCAACAC	XP_011515856.1:p.Asn2160ProfsTer20
XM_011517555.2:c.6477_6478insCCAAACACACCCAACAC	XP_011515857.1:p.Asn2160ProfsTer20
XM_017013612.1:c.6477_6478insCCAAACACACCCAACAC	XP_016869101.1:p.Asn2160ProfsTer20
XM_017013613.1:c.6387_6388insCCAAACACACCCAACAC	XP_016869102.1:p.Asn2130ProfsTer20
NM_017780.4:c.6387_6388insCCAAACACACCCAACAC MANE Select	NP_060250.2:p.Asn2130ProfsTer20