Canonical Allele Identifier: CA10625663

Gene: CHD7

Linked Data

• ClinVar Variation Id: 363422
• ClinVar RCV Id: RCV000338495 ; RCV000397815
• dbSNP Id: rs886063025
• gnomAD v2: 8-61591344-GGCGGCA-G
• gnomAD v3: 8-60678785-GGCGGCA-G
• gnomAD v4: 8-60678785-GGCGGCA-G
• MyVariant Identifiers: chr8:g.61591350_61591355del (hg19) ; chr8:g.61591345_61591350del (hg19) ; chr8:g.60678791_60678796del (hg38) ; chr8:g.60678786_60678791del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60678791_60678796del , CM000670.2:g.60678791_60678796del	GRCh38
NC_000008.10:g.61591350_61591355del , CM000670.1:g.61591350_61591355del	GRCh37
NC_000008.9:g.61753904_61753909del	NCBI36
NG_007009.1:g.5012_5017del , LRG_176:g.5012_5017del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.48_53del
ENST00000695849.1:n.48_53del
ENST00000695853.1:c.-466_-461del	ENSP00000512218.1:n.-466_-461del
ENST00000423902.7:c.-466_-461del MANE Select	ENSP00000392028.1:n.-466_-461del
ENST00000423902.6:c.-466_-461del	ENSP00000392028.1:n.-466_-461del
NM_017780.3:c.-466_-461del	NP_060250.2:n.-466_-461del
XM_011517553.1:c.-466_-461del	XP_011515855.1:n.-466_-461del
XM_011517555.1:c.-466_-461del	XP_011515857.1:n.-466_-461del
XM_011517556.1:c.-466_-461del	XP_011515858.1:n.-466_-461del
XM_011517560.1:c.-466_-461del	XP_011515862.1:n.-466_-461del
XR_928950.1:n.83+154_83+159del
XM_011517553.2:c.-466_-461del	XP_011515855.1:n.-466_-461del
XM_011517555.2:c.-466_-461del	XP_011515857.1:n.-466_-461del
XM_011517560.2:c.-466_-461del	XP_011515862.1:n.-466_-461del
XM_017013613.1:c.-466_-461del	XP_016869102.1:n.-466_-461del
NM_017780.4:c.-466_-461del MANE Select	NP_060250.2:n.-466_-461del