Canonical Allele Identifier: CA2635936878

Gene: HES7

Linked Data

• gnomAD v4: 17-8121643-C-CGGCGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8121649_8121654dup , CM000679.2:g.8121649_8121654dup	GRCh38
NC_000017.10:g.8024967_8024972dup , CM000679.1:g.8024967_8024972dup	GRCh37
NC_000017.9:g.7965692_7965697dup	NCBI36
NG_015807.1:g.2268_2273dup
NG_015816.1:g.7444_7449dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541682.7:c.615_620dup MANE Select	ENSP00000446205.2:p.Pro207_Pro208insProPro
ENST00000317814.8:c.600_605dup	ENSP00000314774.4:p.Pro202_Pro203insProPro
ENST00000541682.6:c.615_620dup	ENSP00000446205.2:p.Pro207_Pro208insProPro
NM_001165967.1:c.615_620dup	NP_001159439.1:p.Pro207_Pro208insProPro
NM_032580.3:c.600_605dup	NP_115969.2:p.Pro202_Pro203insProPro
XM_011524038.1:c.720_725dup	XP_011522340.1:p.Pro242_Pro243insProPro
XM_011524039.1:c.711_716dup	XP_011522341.1:p.Pro239_Pro240insProPro
XM_011524040.1:c.711_716dup	XP_011522342.1:p.Pro239_Pro240insProPro
XM_011524041.1:c.702_707dup	XP_011522343.1:p.Pro236_Pro237insProPro
XM_011524042.1:c.573_578dup	XP_011522344.1:p.Pro193_Pro194insProPro
XR_934203.1:n.69+1835_69+1840dup
XM_017025232.1:c.720_725dup	XP_016880721.1:p.Pro242_Pro243insProPro
XM_024451007.1:c.720_725dup	XP_024306775.1:p.Pro242_Pro243insProPro
NM_001165967.2:c.615_620dup MANE Select	NP_001159439.1:p.Pro207_Pro208insProPro
NM_032580.4:c.600_605dup	NP_115969.2:p.Pro202_Pro203insProPro