Canonical Allele Identifier: CA775624143

Gene: HES7

Linked Data

• dbSNP Id: rs1489481429
• MyVariant Identifiers: chr17:g.8025363_8025386del (hg19) ; chr17:g.8122045_8122068del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8122047_8122070del , CM000679.2:g.8122047_8122070del	GRCh38
NC_000017.10:g.8025365_8025388del , CM000679.1:g.8025365_8025388del	GRCh37
NC_000017.9:g.7966090_7966113del	NCBI36
NG_015807.1:g.1849_1872del
NG_015816.1:g.7025_7048del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.227-31_227-8del MANE Select	ENSP00000446205.2:n.227-31_227-8del
ENST00000317814.8:c.227-46_227-23del	ENSP00000314774.4:n.227-46_227-23del
ENST00000541682.6:c.227-31_227-8del	ENSP00000446205.2:n.227-31_227-8del
ENST00000577735.1:c.203-31_203-8del	ENSP00000462491.1:n.203-31_203-8del
NM_001165967.1:c.227-31_227-8del	NP_001159439.1:n.227-31_227-8del
NM_032580.3:c.227-46_227-23del	NP_115969.2:n.227-46_227-23del
XM_011524038.1:c.332-31_332-8del	XP_011522340.1:n.332-31_332-8del
XM_011524039.1:c.323-31_323-8del	XP_011522341.1:n.323-31_323-8del
XM_011524040.1:c.323-31_323-8del	XP_011522342.1:n.323-31_323-8del
XM_011524041.1:c.314-31_314-8del	XP_011522343.1:n.314-31_314-8del
XM_011524042.1:c.185-31_185-8del	XP_011522344.1:n.185-31_185-8del
XR_934203.1:n.69+2233_69+2256del
XM_017025232.1:c.332-31_332-8del	XP_016880721.1:n.332-31_332-8del
XM_024451007.1:c.332-31_332-8del	XP_024306775.1:n.332-31_332-8del
NM_001165967.2:c.227-31_227-8del MANE Select	NP_001159439.1:n.227-31_227-8del
NM_032580.4:c.227-46_227-23del	NP_115969.2:n.227-46_227-23del