Canonical Allele Identifier: CA582403472

Gene: CHD7

Linked Data

• dbSNP Id: rs1473344645
• gnomAD v2: 8-61765895-A-AAGTTTTTAT
• MyVariant Identifiers: chr8:g.61765895_61765896insAGTTTTTAT (hg19) ; chr8:g.60853336_60853337insAGTTTTTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60853336_60853337insAGTTTTTAT , CM000670.2:g.60853336_60853337insAGTTTTTAT	GRCh38
NC_000008.10:g.61765895_61765896insAGTTTTTAT , CM000670.1:g.61765895_61765896insAGTTTTTAT	GRCh37
NC_000008.9:g.61928449_61928450insAGTTTTTAT	NCBI36
NG_007009.1:g.179557_179558insAGTTTTTAT , LRG_176:g.179557_179558insAGTTTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6611_6612insAGTTTTTAT	ENSP00000512218.1:p.Lys2204_Gln2205insValPheMet
ENST00000423902.7:c.6611_6612insAGTTTTTAT MANE Select	ENSP00000392028.1:p.Lys2204_Gln2205insValPheMet
ENST00000423902.6:c.6611_6612insAGTTTTTAT	ENSP00000392028.1:p.Lys2204_Gln2205insValPheMet
ENST00000524602.5:c.1717-8893_1717-8892insAGTTTTTAT	ENSP00000437061.1:n.1717-8893_1717-8892insAGTTTTTAT
NM_001316690.1:c.1717-8893_1717-8892insAGTTTTTAT	NP_001303619.1:n.1717-8893_1717-8892insAGTTTTTAT
NM_017780.3:c.6611_6612insAGTTTTTAT	NP_060250.2:p.Lys2204_Gln2205insValPheMet
XM_011517553.1:c.6701_6702insAGTTTTTAT	XP_011515855.1:p.Lys2234_Gln2235insValPheMet
XM_011517554.1:c.6701_6702insAGTTTTTAT	XP_011515856.1:p.Lys2234_Gln2235insValPheMet
XM_011517555.1:c.6701_6702insAGTTTTTAT	XP_011515857.1:p.Lys2234_Gln2235insValPheMet
XM_011517556.1:c.6701_6702insAGTTTTTAT	XP_011515858.1:p.Lys2234_Gln2235insValPheMet
XM_011517557.1:c.4688_4689insAGTTTTTAT	XP_011515859.1:p.Lys1563_Gln1564insValPheMet
XM_011517558.1:c.4238_4239insAGTTTTTAT	XP_011515860.1:p.Lys1413_Gln1414insValPheMet
XM_011517559.1:c.3446_3447insAGTTTTTAT	XP_011515861.1:p.Lys1149_Gln1150insValPheMet
XM_011517553.2:c.6701_6702insAGTTTTTAT	XP_011515855.1:p.Lys2234_Gln2235insValPheMet
XM_011517554.3:c.6701_6702insAGTTTTTAT	XP_011515856.1:p.Lys2234_Gln2235insValPheMet
XM_011517555.2:c.6701_6702insAGTTTTTAT	XP_011515857.1:p.Lys2234_Gln2235insValPheMet
XM_017013612.1:c.6701_6702insAGTTTTTAT	XP_016869101.1:p.Lys2234_Gln2235insValPheMet
XM_017013613.1:c.6611_6612insAGTTTTTAT	XP_016869102.1:p.Lys2204_Gln2205insValPheMet
NM_017780.4:c.6611_6612insAGTTTTTAT MANE Select	NP_060250.2:p.Lys2204_Gln2205insValPheMet