Canonical Allele Identifier: CA582403471

Gene: CHD7

Linked Data

• dbSNP Id: rs1394565175
• gnomAD v2: 8-61765366-T-TA
• MyVariant Identifiers: chr8:g.61765366_61765367insA (hg19) ; chr8:g.60852807_60852808insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852808dup , CM000670.2:g.60852808dup	GRCh38
NC_000008.10:g.61765367dup , CM000670.1:g.61765367dup	GRCh37
NC_000008.9:g.61927921dup	NCBI36
NG_007009.1:g.179029dup , LRG_176:g.179029dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6104-21dup	ENSP00000512218.1:n.6104-21dup
ENST00000423902.7:c.6104-21dup MANE Select	ENSP00000392028.1:n.6104-21dup
ENST00000423902.6:c.6104-21dup	ENSP00000392028.1:n.6104-21dup
ENST00000524602.5:c.1717-9421dup	ENSP00000437061.1:n.1717-9421dup
NM_001316690.1:c.1717-9421dup	NP_001303619.1:n.1717-9421dup
NM_017780.3:c.6104-21dup	NP_060250.2:n.6104-21dup
XM_011517553.1:c.6194-21dup	XP_011515855.1:n.6194-21dup
XM_011517554.1:c.6194-21dup	XP_011515856.1:n.6194-21dup
XM_011517555.1:c.6194-21dup	XP_011515857.1:n.6194-21dup
XM_011517556.1:c.6194-21dup	XP_011515858.1:n.6194-21dup
XM_011517557.1:c.4181-21dup	XP_011515859.1:n.4181-21dup
XM_011517558.1:c.3731-21dup	XP_011515860.1:n.3731-21dup
XM_011517559.1:c.2939-21dup	XP_011515861.1:n.2939-21dup
XM_011517553.2:c.6194-21dup	XP_011515855.1:n.6194-21dup
XM_011517554.3:c.6194-21dup	XP_011515856.1:n.6194-21dup
XM_011517555.2:c.6194-21dup	XP_011515857.1:n.6194-21dup
XM_017013612.1:c.6194-21dup	XP_016869101.1:n.6194-21dup
XM_017013613.1:c.6104-21dup	XP_016869102.1:n.6104-21dup
NM_017780.4:c.6104-21dup MANE Select	NP_060250.2:n.6104-21dup