Canonical Allele Identifier: CA908589765

Gene: HESX1

Linked Data

• dbSNP Id: rs1365672590
• gnomAD v3: 3-57198130-CTT-C
• gnomAD v4: 3-57198130-CTT-C
• MyVariant Identifiers: chr3:g.57232159_57232160del (hg19) ; chr3:g.57198131_57198132del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.57198131_57198132del , CM000665.2:g.57198131_57198132del	GRCh38
NC_000003.11:g.57232159_57232160del , CM000665.1:g.57232159_57232160del	GRCh37
NC_000003.10:g.57207199_57207200del	NCBI36
NG_008242.1:g.7121_7122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295934.8:c.*65_*66del MANE Select	ENSP00000295934.3:n.*65_*66del
ENST00000647958.1:c.*65_*66del	ENSP00000498190.1:n.*65_*66del
ENST00000295934.7:c.*65_*66del	ENSP00000295934.3:n.*65_*66del
ENST00000473921.2:c.*65_*66del	ENSP00000418918.1:n.*65_*66del
NM_003865.2:c.*65_*66del	NP_003856.1:n.*65_*66del
XM_005265526.3:c.*65_*66del	XP_005265583.1:n.*65_*66del
XM_006713379.2:c.*65_*66del	XP_006713442.1:n.*65_*66del
XM_011534204.1:c.*65_*66del	XP_011532506.1:n.*65_*66del
XM_011534205.1:c.*65_*66del	XP_011532507.1:n.*65_*66del
XM_005265526.4:c.*65_*66del	XP_005265583.1:n.*65_*66del
XM_011534204.2:c.*65_*66del	XP_011532506.1:n.*65_*66del
XM_011534205.2:c.*65_*66del	XP_011532507.1:n.*65_*66del
XM_017007421.1:c.*65_*66del	XP_016862910.1:n.*65_*66del
XM_024453809.1:c.*65_*66del	XP_024309577.1:n.*65_*66del
NM_003865.3:c.*65_*66del MANE Select	NP_003856.1:n.*65_*66del
NM_001376058.1:c.*65_*66del	NP_001362987.1:n.*65_*66del
NM_001376059.1:c.*65_*66del	NP_001362988.1:n.*65_*66del
NM_001376060.1:c.*65_*66del	NP_001362989.1:n.*65_*66del
NM_001376061.1:c.*65_*66del	NP_001362990.1:n.*65_*66del
NR_164757.1:n.1116_1117del