Canonical Allele Identifier: CA1788101706

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852687_60852688delinsGC , CM000670.2:g.60852687_60852688delinsGC	GRCh38
NC_000008.10:g.61765246_61765247delinsGC , CM000670.1:g.61765246_61765247delinsGC	GRCh37
NC_000008.9:g.61927800_61927801delinsGC	NCBI36
NG_007009.1:g.178908_178909delinsGC , LRG_176:g.178908_178909delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6084_6085delinsGC	ENSP00000512218.1:p.Met2028=
ENST00000423902.7:c.6084_6085delinsGC MANE Select	ENSP00000392028.1:p.Met2028=
ENST00000423902.6:c.6084_6085delinsGC	ENSP00000392028.1:p.Met2028=
ENST00000524602.5:c.1717-9542_1717-9541delinsGC	ENSP00000437061.1:n.1717-9542_1717-9541delinsGC
NM_001316690.1:c.1717-9542_1717-9541delinsGC	NP_001303619.1:n.1717-9542_1717-9541delinsGC
NM_017780.3:c.6084_6085delinsGC	NP_060250.2:p.Met2028=
XM_011517553.1:c.6174_6175delinsGC	XP_011515855.1:p.Met2058=
XM_011517554.1:c.6174_6175delinsGC	XP_011515856.1:p.Met2058=
XM_011517555.1:c.6174_6175delinsGC	XP_011515857.1:p.Met2058=
XM_011517556.1:c.6174_6175delinsGC	XP_011515858.1:p.Met2058=
XM_011517557.1:c.4161_4162delinsGC	XP_011515859.1:p.Met1387=
XM_011517558.1:c.3711_3712delinsGC	XP_011515860.1:p.Met1237=
XM_011517559.1:c.2919_2920delinsGC	XP_011515861.1:p.Met973=
XM_011517553.2:c.6174_6175delinsGC	XP_011515855.1:p.Met2058=
XM_011517554.3:c.6174_6175delinsGC	XP_011515856.1:p.Met2058=
XM_011517555.2:c.6174_6175delinsGC	XP_011515857.1:p.Met2058=
XM_017013612.1:c.6174_6175delinsGC	XP_016869101.1:p.Met2058=
XM_017013613.1:c.6084_6085delinsGC	XP_016869102.1:p.Met2028=
NM_017780.4:c.6084_6085delinsGC MANE Select	NP_060250.2:p.Met2028=