Canonical Allele Identifier: CA658821257

Gene: CHD7

Linked Data

• ClinVar Variation Id: 547191
• ClinVar RCV Id: RCV000659297
• dbSNP Id: rs1554581814
• MyVariant Identifiers: chr8:g.61655588_61655589insT (hg19) ; chr8:g.60743029_60743030insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60743029_60743030insT , CM000670.2:g.60743029_60743030insT	GRCh38
NC_000008.10:g.61655588_61655589insT , CM000670.1:g.61655588_61655589insT	GRCh37
NC_000008.9:g.61818142_61818143insT	NCBI36
NG_007009.1:g.69250_69251insT , LRG_176:g.69250_69251insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695848.1:n.2110_2111insT
ENST00000695849.1:n.2110_2111insT
ENST00000695853.1:c.1597_1598insT	ENSP00000512218.1:p.His533LeufsTer?
ENST00000700671.1:c.1597_1598insT	ENSP00000515139.1:p.His533LeufsTer?
ENST00000423902.7:c.1597_1598insT MANE Select	ENSP00000392028.1:p.His533LeufsTer?
ENST00000423902.6:c.1597_1598insT	ENSP00000392028.1:p.His533LeufsTer?
ENST00000524602.5:c.1597_1598insT	ENSP00000437061.1:p.His533LeufsTer?
ENST00000525508.1:c.1597_1598insT	ENSP00000436027.1:p.His533LeufsTer?
ENST00000527825.1:c.241_242insT
NM_001316690.1:c.1597_1598insT	NP_001303619.1:p.His533LeufsTer?
NM_017780.3:c.1597_1598insT	NP_060250.2:p.His533LeufsTer?
XM_011517553.1:c.1597_1598insT	XP_011515855.1:p.His533LeufsTer?
XM_011517554.1:c.1597_1598insT	XP_011515856.1:p.His533LeufsTer?
XM_011517555.1:c.1597_1598insT	XP_011515857.1:p.His533LeufsTer?
XM_011517556.1:c.1597_1598insT	XP_011515858.1:p.His533LeufsTer?
XM_011517560.1:c.1597_1598insT	XP_011515862.1:p.His533LeufsTer?
XM_011517553.2:c.1597_1598insT	XP_011515855.1:p.His533LeufsTer?
XM_011517554.3:c.1597_1598insT	XP_011515856.1:p.His533LeufsTer?
XM_011517555.2:c.1597_1598insT	XP_011515857.1:p.His533LeufsTer?
XM_011517560.2:c.1597_1598insT	XP_011515862.1:p.His533LeufsTer?
XM_017013612.1:c.1597_1598insT	XP_016869101.1:p.His533LeufsTer?
XM_017013613.1:c.1597_1598insT	XP_016869102.1:p.His533LeufsTer?
NM_017780.4:c.1597_1598insT MANE Select	NP_060250.2:p.His533LeufsTer?