Canonical Allele Identifier: CA1788104800

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853351_60853352delinsCA , CM000670.2:g.60853351_60853352delinsCA	GRCh38
NC_000008.10:g.61765910_61765911delinsCA , CM000670.1:g.61765910_61765911delinsCA	GRCh37
NC_000008.9:g.61928464_61928465delinsCA	NCBI36
NG_007009.1:g.179572_179573delinsCA , LRG_176:g.179572_179573delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6626_6627delinsCA	ENSP00000512218.1:p.Ala2209=
ENST00000423902.7:c.6626_6627delinsCA MANE Select	ENSP00000392028.1:p.Ala2209=
ENST00000423902.6:c.6626_6627delinsCA	ENSP00000392028.1:p.Ala2209=
ENST00000524602.5:c.1717-8878_1717-8877delinsCA	ENSP00000437061.1:n.1717-8878_1717-8877delinsCA
NM_001316690.1:c.1717-8878_1717-8877delinsCA	NP_001303619.1:n.1717-8878_1717-8877delinsCA
NM_017780.3:c.6626_6627delinsCA	NP_060250.2:p.Ala2209=
XM_011517553.1:c.6716_6717delinsCA	XP_011515855.1:p.Ala2239=
XM_011517554.1:c.6716_6717delinsCA	XP_011515856.1:p.Ala2239=
XM_011517555.1:c.6716_6717delinsCA	XP_011515857.1:p.Ala2239=
XM_011517556.1:c.6716_6717delinsCA	XP_011515858.1:p.Ala2239=
XM_011517557.1:c.4703_4704delinsCA	XP_011515859.1:p.Ala1568=
XM_011517558.1:c.4253_4254delinsCA	XP_011515860.1:p.Ala1418=
XM_011517559.1:c.3461_3462delinsCA	XP_011515861.1:p.Ala1154=
XM_011517553.2:c.6716_6717delinsCA	XP_011515855.1:p.Ala2239=
XM_011517554.3:c.6716_6717delinsCA	XP_011515856.1:p.Ala2239=
XM_011517555.2:c.6716_6717delinsCA	XP_011515857.1:p.Ala2239=
XM_017013612.1:c.6716_6717delinsCA	XP_016869101.1:p.Ala2239=
XM_017013613.1:c.6626_6627delinsCA	XP_016869102.1:p.Ala2209=
NM_017780.4:c.6626_6627delinsCA MANE Select	NP_060250.2:p.Ala2209=