Canonical Allele Identifier: CA4759507

Gene: CHD7

Linked Data

• ClinVar Variation Id: 1520954
• ClinVar RCV Id: RCV002046201
• dbSNP Id: rs746859882
• ExAC: 8:61655532 GTCC / G
• gnomAD v2: 8-61655532-GTCC-G
• gnomAD v3: 8-60742973-GTCC-G
• gnomAD v4: 8-60742973-GTCC-G
• MyVariant Identifiers: chr8:g.61655533_61655535del (hg19) ; chr8:g.60742974_60742976del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60742977_60742979del , CM000670.2:g.60742977_60742979del	GRCh38
NC_000008.10:g.61655536_61655538del , CM000670.1:g.61655536_61655538del	GRCh37
NC_000008.9:g.61818090_61818092del	NCBI36
NG_007009.1:g.69198_69200del , LRG_176:g.69198_69200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2058_2060del
ENST00000695849.1:n.2058_2060del
ENST00000695853.1:c.1545_1547del	ENSP00000512218.1:p.Pro516del
ENST00000700671.1:c.1545_1547del	ENSP00000515139.1:p.Pro516del
ENST00000423902.7:c.1545_1547del MANE Select	ENSP00000392028.1:p.Pro516del
ENST00000423902.6:c.1545_1547del	ENSP00000392028.1:p.Pro516del
ENST00000524602.5:c.1545_1547del	ENSP00000437061.1:p.Pro516del
ENST00000525508.1:c.1545_1547del	ENSP00000436027.1:p.Pro516del
ENST00000527825.1:c.189_191del
NM_001316690.1:c.1545_1547del	NP_001303619.1:p.Pro516del
NM_017780.3:c.1545_1547del	NP_060250.2:p.Pro516del
XM_011517553.1:c.1545_1547del	XP_011515855.1:p.Pro516del
XM_011517554.1:c.1545_1547del	XP_011515856.1:p.Pro516del
XM_011517555.1:c.1545_1547del	XP_011515857.1:p.Pro516del
XM_011517556.1:c.1545_1547del	XP_011515858.1:p.Pro516del
XM_011517560.1:c.1545_1547del	XP_011515862.1:p.Pro516del
XM_011517553.2:c.1545_1547del	XP_011515855.1:p.Pro516del
XM_011517554.3:c.1545_1547del	XP_011515856.1:p.Pro516del
XM_011517555.2:c.1545_1547del	XP_011515857.1:p.Pro516del
XM_011517560.2:c.1545_1547del	XP_011515862.1:p.Pro516del
XM_017013612.1:c.1545_1547del	XP_016869101.1:p.Pro516del
XM_017013613.1:c.1545_1547del	XP_016869102.1:p.Pro516del
NM_017780.4:c.1545_1547del MANE Select	NP_060250.2:p.Pro516del