Canonical Allele Identifier: CA1788103278

Gene: CHD7

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853015_60853016delinsAC , CM000670.2:g.60853015_60853016delinsAC	GRCh38
NC_000008.10:g.61765574_61765575delinsAC , CM000670.1:g.61765574_61765575delinsAC	GRCh37
NC_000008.9:g.61928128_61928129delinsAC	NCBI36
NG_007009.1:g.179236_179237delinsAC , LRG_176:g.179236_179237delinsAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000695853.1:c.6290_6291delinsAC	ENSP00000512218.1:p.Asp2097=
ENST00000423902.7:c.6290_6291delinsAC MANE Select	ENSP00000392028.1:p.Asp2097=
ENST00000423902.6:c.6290_6291delinsAC	ENSP00000392028.1:p.Asp2097=
ENST00000524602.5:c.1717-9214_1717-9213delinsAC	ENSP00000437061.1:n.1717-9214_1717-9213de...
NM_001316690.1:c.1717-9214_1717-9213delinsAC	NP_001303619.1:n.1717-9214_1717-9213delin...
NM_017780.3:c.6290_6291delinsAC	NP_060250.2:p.Asp2097=
XM_011517553.1:c.6380_6381delinsAC	XP_011515855.1:p.Asp2127=
XM_011517554.1:c.6380_6381delinsAC	XP_011515856.1:p.Asp2127=
XM_011517555.1:c.6380_6381delinsAC	XP_011515857.1:p.Asp2127=
XM_011517556.1:c.6380_6381delinsAC	XP_011515858.1:p.Asp2127=
XM_011517557.1:c.4367_4368delinsAC	XP_011515859.1:p.Asp1456=
XM_011517558.1:c.3917_3918delinsAC	XP_011515860.1:p.Asp1306=
XM_011517559.1:c.3125_3126delinsAC	XP_011515861.1:p.Asp1042=
XM_011517553.2:c.6380_6381delinsAC	XP_011515855.1:p.Asp2127=
XM_011517554.3:c.6380_6381delinsAC	XP_011515856.1:p.Asp2127=
XM_011517555.2:c.6380_6381delinsAC	XP_011515857.1:p.Asp2127=
XM_017013612.1:c.6380_6381delinsAC	XP_016869101.1:p.Asp2127=
XM_017013613.1:c.6290_6291delinsAC	XP_016869102.1:p.Asp2097=
NM_017780.4:c.6290_6291delinsAC MANE Select	NP_060250.2:p.Asp2097=