Canonical Allele Identifier: CA853912558

Gene: CHD7

Linked Data

• dbSNP Id: rs1375194421
• gnomAD v4: 8-60852760-TAAG-T
• MyVariant Identifiers: chr8:g.61765320_61765322del (hg19) ; chr8:g.60852761_60852763del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60852763_60852765del , CM000670.2:g.60852763_60852765del	GRCh38
NC_000008.10:g.61765322_61765324del , CM000670.1:g.61765322_61765324del	GRCh37
NC_000008.9:g.61927876_61927878del	NCBI36
NG_007009.1:g.178984_178986del , LRG_176:g.178984_178986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695853.1:c.6103+57_6103+59del	ENSP00000512218.1:n.6103+57_6103+59del
ENST00000423902.7:c.6103+57_6103+59del MANE Select	ENSP00000392028.1:n.6103+57_6103+59del
ENST00000423902.6:c.6103+57_6103+59del	ENSP00000392028.1:n.6103+57_6103+59del
ENST00000524602.5:c.1717-9466_1717-9464del	ENSP00000437061.1:n.1717-9466_1717-9464del
NM_001316690.1:c.1717-9466_1717-9464del	NP_001303619.1:n.1717-9466_1717-9464del
NM_017780.3:c.6103+57_6103+59del	NP_060250.2:n.6103+57_6103+59del
XM_011517553.1:c.6193+57_6193+59del	XP_011515855.1:n.6193+57_6193+59del
XM_011517554.1:c.6193+57_6193+59del	XP_011515856.1:n.6193+57_6193+59del
XM_011517555.1:c.6193+57_6193+59del	XP_011515857.1:n.6193+57_6193+59del
XM_011517556.1:c.6193+57_6193+59del	XP_011515858.1:n.6193+57_6193+59del
XM_011517557.1:c.4180+57_4180+59del	XP_011515859.1:n.4180+57_4180+59del
XM_011517558.1:c.3730+57_3730+59del	XP_011515860.1:n.3730+57_3730+59del
XM_011517559.1:c.2938+57_2938+59del	XP_011515861.1:n.2938+57_2938+59del
XM_011517553.2:c.6193+57_6193+59del	XP_011515855.1:n.6193+57_6193+59del
XM_011517554.3:c.6193+57_6193+59del	XP_011515856.1:n.6193+57_6193+59del
XM_011517555.2:c.6193+57_6193+59del	XP_011515857.1:n.6193+57_6193+59del
XM_017013612.1:c.6193+57_6193+59del	XP_016869101.1:n.6193+57_6193+59del
XM_017013613.1:c.6103+57_6103+59del	XP_016869102.1:n.6103+57_6103+59del
NM_017780.4:c.6103+57_6103+59del MANE Select	NP_060250.2:n.6103+57_6103+59del