Canonical Allele Identifier: CA2695146920

Gene: G6PD

Linked Data

• gnomAD v4: X-154534430-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534431_154534432dup , CM000685.2:g.154534431_154534432dup	GRCh38
NC_000023.10:g.153762646_153762647dup , CM000685.1:g.153762646_153762647dup	GRCh37
NC_000023.9:g.153415840_153415841dup	NCBI36
NG_009015.2:g.18141_18142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.550_551dup	ENSP00000377194.2:p.Asn185ProfsTer?
ENST00000439227.6:c.553_554dup	ENSP00000395599.2:p.Asn186ProfsTer?
ENST00000696420.1:c.550_551dup	ENSP00000512615.1:p.Asn185ProfsTer?
ENST00000696421.1:c.550_551dup	ENSP00000512616.1:p.Asn185ProfsTer?
ENST00000696422.1:c.413_414dup
ENST00000696423.1:c.416_417dup
ENST00000696424.1:c.430_431dup	ENSP00000512619.1:p.Asn145ProfsTer?
ENST00000696425.1:c.550_551dup	ENSP00000512620.1:p.Asn185ProfsTer?
ENST00000696426.1:c.550_551dup	ENSP00000512621.1:p.Asn185ProfsTer?
ENST00000696427.1:c.550_551dup	ENSP00000512622.1:p.Asn185ProfsTer?
ENST00000696428.1:c.*392_*393dup	ENSP00000512623.1:n.*392_*393dup
ENST00000696429.1:c.550_551dup	ENSP00000512624.1:p.Asn185ProfsTer?
ENST00000696430.1:c.550_551dup	ENSP00000512625.1:p.Asn185ProfsTer?
ENST00000393562.10:c.550_551dup MANE Select	ENSP00000377192.3:p.Asn185ProfsTer?
ENST00000369620.6:c.550_551dup	ENSP00000358633.2:p.Asn185ProfsTer?
ENST00000393562.6:c.640_641dup	ENSP00000377192.2:p.Asn215ProfsTer?
ENST00000393564.6:c.550_551dup	ENSP00000377194.2:p.Asn185ProfsTer?
ENST00000433845.1:c.550_551dup	ENSP00000394690.1:p.Asn185ProfsTer?
ENST00000439227.5:c.553_554dup	ENSP00000395599.1:p.Asn186ProfsTer?
ENST00000440967.5:c.553_554dup	ENSP00000400648.1:p.Asn186ProfsTer?
ENST00000621232.4:c.550_551dup	ENSP00000483686.1:p.Asn185ProfsTer?
NM_000402.4:c.640_641dup	NP_000393.4:p.Asn215ProfsTer?
NM_001042351.2:c.550_551dup	NP_001035810.1:p.Asn185ProfsTer?
XM_005274657.2:c.643_644dup	XP_005274714.1:p.Asn216ProfsTer?
XM_005274658.2:c.553_554dup	XP_005274715.1:p.Asn186ProfsTer?
XM_011531132.1:c.643_644dup	XP_011529434.1:p.Asn216ProfsTer?
NM_001360016.2:c.550_551dup MANE Select	NP_001346945.1:p.Asn185ProfsTer?
NM_001042351.3:c.550_551dup	NP_001035810.1:p.Asn185ProfsTer?