Canonical Allele Identifier: CA873340120

Gene: G6PD

Linked Data

• dbSNP Id: rs1420907927
• gnomAD v3: X-154531476-CCTA-C
• gnomAD v4: X-154531476-CCTA-C
• MyVariant Identifiers: chrX:g.154531477_154531479del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531478_154531480del , CM000685.2:g.154531478_154531480del	GRCh38
NC_000023.10:g.153759693_153759695del , CM000685.1:g.153759693_153759695del	GRCh37
NC_000023.9:g.153412887_153412889del	NCBI36
NG_009015.2:g.21094_21096del

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.*521_*523del	ENSP00000377194.2:n.*521_*523del
ENST00000439227.6:c.*521_*523del	ENSP00000395599.2:n.*521_*523del
ENST00000696420.1:c.1457+709_1457+711del	ENSP00000512615.1:n.1457+709_1457+711del
ENST00000696421.1:c.1457+709_1457+711del	ENSP00000512616.1:n.1457+709_1457+711del
ENST00000696422.1:c.1932_1934del
ENST00000696423.1:c.1935_1937del
ENST00000696424.1:c.1921_1923del	ENSP00000512619.1:n.1921_1923del
ENST00000696425.1:c.*982_*984del	ENSP00000512620.1:n.*982_*984del
ENST00000696426.1:c.*1529_*1531del	ENSP00000512621.1:n.*1529_*1531del
ENST00000696427.1:c.*1029_*1031del	ENSP00000512622.1:n.*1029_*1031del
ENST00000696428.1:c.*1911_*1913del	ENSP00000512623.1:n.*1911_*1913del
ENST00000696429.1:c.*521_*523del	ENSP00000512624.1:n.*521_*523del
ENST00000696430.1:c.*521_*523del	ENSP00000512625.1:n.*521_*523del
ENST00000393562.10:c.*521_*523del MANE Select	ENSP00000377192.3:n.*521_*523del
ENST00000393562.6:c.*521_*523del	ENSP00000377192.2:n.*521_*523del
ENST00000621232.4:c.*521_*523del	ENSP00000483686.1:n.*521_*523del
NM_000402.4:c.*521_*523del	NP_000393.4:n.*521_*523del
NM_001042351.2:c.*521_*523del	NP_001035810.1:n.*521_*523del
XM_005274657.2:c.*521_*523del	XP_005274714.1:n.*521_*523del
XM_005274658.2:c.*521_*523del	XP_005274715.1:n.*521_*523del
NM_001360016.2:c.*521_*523del MANE Select	NP_001346945.1:n.*521_*523del
NM_001042351.3:c.*521_*523del	NP_001035810.1:n.*521_*523del