Canonical Allele Identifier: CA575341

Gene: H6PD

Linked Data

• dbSNP Id: rs758167232
• ExAC: 1:9324108 GGTT / G
• gnomAD v2: 1-9324108-GGTT-G
• gnomAD v3: 1-9264049-GGTT-G
• gnomAD v4: 1-9264049-GGTT-G
• MyVariant Identifiers: chr1:g.9324109_9324111del (hg19) ; chr1:g.9264050_9264052del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.9264053_9264055del , CM000663.2:g.9264053_9264055del	GRCh38
NC_000001.10:g.9324112_9324114del , CM000663.1:g.9324112_9324114del	GRCh37
NC_000001.9:g.9246699_9246701del	NCBI36
NG_012218.1:g.34250_34252del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377403.7:c.1560_1562del MANE Select	ENSP00000366620.2:p.Leu520del
ENST00000377403.6:c.1560_1562del	ENSP00000366620.1:p.Leu520del
ENST00000602477.1:c.1593_1595del	ENSP00000473348.1:p.Leu531del
NM_001282587.1:c.1593_1595del	NP_001269516.1:p.Leu531del
NM_004285.3:c.1560_1562del	NP_004276.2:p.Leu520del
XM_005263539.3:c.1593_1595del	XP_005263596.1:p.Leu531del
XM_005263540.3:c.1587_1589del	XP_005263597.1:p.Leu529del
XM_006711052.2:c.1560_1562del	XP_006711115.1:p.Leu520del
XM_011542446.1:c.1560_1562del	XP_011540748.1:p.Leu520del
XM_005263540.5:c.1587_1589del	XP_005263597.1:p.Leu529del
XM_006711052.4:c.1560_1562del	XP_006711115.1:p.Leu520del
XM_017002865.2:c.1560_1562del	XP_016858354.1:p.Leu520del
XM_017002866.2:c.492_494del	XP_016858355.1:p.Leu164del
NM_001282587.2:c.1593_1595del	NP_001269516.1:p.Leu531del
NM_004285.4:c.1560_1562del MANE Select	NP_004276.2:p.Leu520del