Canonical Allele Identifier: CA575403

Gene: H6PD

Linked Data

• ClinVar Variation Id: 2415138
• ClinVar RCV Id: RCV003110557
• dbSNP Id: rs780502365
• ExAC: 1:9324294 GCTTTGGCCAGTTCCACCTGGCA / G
• gnomAD v2: 1-9324294-GCTTTGGCCAGTTCCACCTGGCA-G
• gnomAD v3: 1-9264235-GCTTTGGCCAGTTCCACCTGGCA-G
• gnomAD v4: 1-9264235-GCTTTGGCCAGTTCCACCTGGCA-G
• MyVariant Identifiers: chr1:g.9324295_9324316del (hg19) ; chr1:g.9264236_9264257del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264238_9264259del , CM000663.2:g.9264238_9264259del	GRCh38
NC_000001.10:g.9324297_9324318del , CM000663.1:g.9324297_9324318del	GRCh37
NC_000001.9:g.9246884_9246905del	NCBI36
NG_012218.1:g.34435_34456del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377403.7:c.1745_1766del MANE Select	ENSP00000366620.2:p.Phe582CysfsTer?
ENST00000377403.6:c.1745_1766del	ENSP00000366620.1:p.Phe582CysfsTer?
ENST00000602477.1:c.1778_1799del	ENSP00000473348.1:p.Phe593CysfsTer?
NM_001282587.1:c.1778_1799del	NP_001269516.1:p.Phe593CysfsTer?
NM_004285.3:c.1745_1766del	NP_004276.2:p.Phe582CysfsTer?
XM_005263539.3:c.1778_1799del	XP_005263596.1:p.Phe593CysfsTer?
XM_005263540.3:c.1772_1793del	XP_005263597.1:p.Phe591CysfsTer?
XM_006711052.2:c.1745_1766del	XP_006711115.1:p.Phe582CysfsTer?
XM_011542446.1:c.1745_1766del	XP_011540748.1:p.Phe582CysfsTer?
XM_005263540.5:c.1772_1793del	XP_005263597.1:p.Phe591CysfsTer?
XM_006711052.4:c.1745_1766del	XP_006711115.1:p.Phe582CysfsTer?
XM_017002865.2:c.1745_1766del	XP_016858354.1:p.Phe582CysfsTer?
XM_017002866.2:c.677_698del	XP_016858355.1:p.Phe226CysfsTer?
NM_001282587.2:c.1778_1799del	NP_001269516.1:p.Phe593CysfsTer?
NM_004285.4:c.1745_1766del MANE Select	NP_004276.2:p.Phe582CysfsTer?