Canonical Allele Identifier: CA1114432474

Gene: CHD7

Linked Data

• dbSNP Id: rs1805329870
• gnomAD v3: 8-60848984-ATGTAT-A
• gnomAD v4: 8-60848984-ATGTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60848985_60848989del , CM000670.2:g.60848985_60848989del	GRCh38
NC_000008.10:g.61761544_61761548del , CM000670.1:g.61761544_61761548del	GRCh37
NC_000008.9:g.61924098_61924102del	NCBI36
NG_007009.1:g.175206_175210del , LRG_176:g.175206_175210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.5301-66_5301-62del	ENSP00000512218.1:n.5301-66_5301-62del
ENST00000423902.7:c.5301-66_5301-62del MANE Select	ENSP00000392028.1:n.5301-66_5301-62del
ENST00000423902.6:c.5301-66_5301-62del	ENSP00000392028.1:n.5301-66_5301-62del
ENST00000524602.5:c.1717-13244_1717-13240del	ENSP00000437061.1:n.1717-13244_1717-13240del
NM_001316690.1:c.1717-13244_1717-13240del	NP_001303619.1:n.1717-13244_1717-13240del
NM_017780.3:c.5301-66_5301-62del	NP_060250.2:n.5301-66_5301-62del
XM_011517553.1:c.5391-66_5391-62del	XP_011515855.1:n.5391-66_5391-62del
XM_011517554.1:c.5391-66_5391-62del	XP_011515856.1:n.5391-66_5391-62del
XM_011517555.1:c.5391-66_5391-62del	XP_011515857.1:n.5391-66_5391-62del
XM_011517556.1:c.5391-66_5391-62del	XP_011515858.1:n.5391-66_5391-62del
XM_011517557.1:c.3378-66_3378-62del	XP_011515859.1:n.3378-66_3378-62del
XM_011517558.1:c.2928-66_2928-62del	XP_011515860.1:n.2928-66_2928-62del
XM_011517559.1:c.2136-66_2136-62del	XP_011515861.1:n.2136-66_2136-62del
XM_011517553.2:c.5391-66_5391-62del	XP_011515855.1:n.5391-66_5391-62del
XM_011517554.3:c.5391-66_5391-62del	XP_011515856.1:n.5391-66_5391-62del
XM_011517555.2:c.5391-66_5391-62del	XP_011515857.1:n.5391-66_5391-62del
XM_017013612.1:c.5391-66_5391-62del	XP_016869101.1:n.5391-66_5391-62del
XM_017013613.1:c.5301-66_5301-62del	XP_016869102.1:n.5301-66_5301-62del
NM_017780.4:c.5301-66_5301-62del MANE Select	NP_060250.2:n.5301-66_5301-62del