Canonical Allele Identifier: CA853914902

Gene: CHD7

Linked Data

• dbSNP Id: rs1268682787
• MyVariant Identifiers: chr8:g.61693636_61693638del (hg19) ; chr8:g.60781077_60781079del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60781079_60781081del , CM000670.2:g.60781079_60781081del	GRCh38
NC_000008.10:g.61693638_61693640del , CM000670.1:g.61693638_61693640del	GRCh37
NC_000008.9:g.61856192_61856194del	NCBI36
NG_007009.1:g.107300_107302del , LRG_176:g.107300_107302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2258_2260del
ENST00000695849.1:n.2258_2260del
ENST00000695853.1:c.1745_1747del	ENSP00000512218.1:p.Lys582del
ENST00000700671.1:c.1745_1747del	ENSP00000515139.1:p.Lys582del
ENST00000423902.7:c.1745_1747del MANE Select	ENSP00000392028.1:p.Lys582del
ENST00000423902.6:c.1745_1747del	ENSP00000392028.1:p.Lys582del
ENST00000524602.5:c.1716+29_1716+31del	ENSP00000437061.1:n.1716+29_1716+31del
ENST00000525508.1:c.1745_1747del	ENSP00000436027.1:p.Lys582del
ENST00000527825.1:c.389_391del
ENST00000527900.1:c.117+29_117+31del	ENSP00000433336.1:n.117+29_117+31del
NM_001316690.1:c.1716+29_1716+31del	NP_001303619.1:n.1716+29_1716+31del
NM_017780.3:c.1745_1747del	NP_060250.2:p.Lys582del
XM_011517553.1:c.1745_1747del	XP_011515855.1:p.Lys582del
XM_011517554.1:c.1745_1747del	XP_011515856.1:p.Lys582del
XM_011517555.1:c.1745_1747del	XP_011515857.1:p.Lys582del
XM_011517556.1:c.1745_1747del	XP_011515858.1:p.Lys582del
XM_011517560.1:c.1745_1747del	XP_011515862.1:p.Lys582del
XM_011517553.2:c.1745_1747del	XP_011515855.1:p.Lys582del
XM_011517554.3:c.1745_1747del	XP_011515856.1:p.Lys582del
XM_011517555.2:c.1745_1747del	XP_011515857.1:p.Lys582del
XM_011517560.2:c.1745_1747del	XP_011515862.1:p.Lys582del
XM_017013612.1:c.1745_1747del	XP_016869101.1:p.Lys582del
XM_017013613.1:c.1745_1747del	XP_016869102.1:p.Lys582del
NM_017780.4:c.1745_1747del MANE Select	NP_060250.2:p.Lys582del