Canonical Allele Identifier: CA2824282516

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534395_154534396insCATCTT , CM000685.2:g.154534395_154534396insCATCTT	GRCh38
NC_000023.10:g.153762610_153762611insCATCTT , CM000685.1:g.153762610_153762611insCATCTT	GRCh37
NC_000023.9:g.153415804_153415805insCATCTT	NCBI36
NG_009015.2:g.18177_18178insAAGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.586_587insAAGATG	ENSP00000377194.2:p.Ile196delinsLysAspVal
ENST00000439227.6:c.589_590insAAGATG	ENSP00000395599.2:p.Ile197delinsLysAspVal
ENST00000696420.1:c.586_587insAAGATG	ENSP00000512615.1:p.Ile196delinsLysAspVal
ENST00000696421.1:c.586_587insAAGATG	ENSP00000512616.1:p.Ile196delinsLysAspVal
ENST00000696422.1:c.449_450insAAGATG
ENST00000696423.1:c.452_453insAAGATG
ENST00000696424.1:c.466_467insAAGATG	ENSP00000512619.1:p.Ile156delinsLysAspVal
ENST00000696425.1:c.586_587insAAGATG	ENSP00000512620.1:p.Ile196delinsLysAspVal
ENST00000696426.1:c.586_587insAAGATG	ENSP00000512621.1:p.Ile196delinsLysAspVal
ENST00000696427.1:c.586_587insAAGATG	ENSP00000512622.1:p.Ile196delinsLysAspVal
ENST00000696428.1:c.*428_*429insAAGATG	ENSP00000512623.1:n.*428_*429insAAGATG
ENST00000696429.1:c.586_587insAAGATG	ENSP00000512624.1:p.Ile196delinsLysAspVal
ENST00000696430.1:c.586_587insAAGATG	ENSP00000512625.1:p.Ile196delinsLysAspVal
ENST00000393562.10:c.586_587insAAGATG MANE Select	ENSP00000377192.3:p.Ile196delinsLysAspVal
ENST00000369620.6:c.586_587insAAGATG	ENSP00000358633.2:p.Ile196delinsLysAspVal
ENST00000393562.6:c.676_677insAAGATG	ENSP00000377192.2:p.Ile226delinsLysAspVal
ENST00000393564.6:c.586_587insAAGATG	ENSP00000377194.2:p.Ile196delinsLysAspVal
ENST00000433845.1:c.586_587insAAGATG	ENSP00000394690.1:p.Ile196delinsLysAspVal
ENST00000439227.5:c.589_590insAAGATG	ENSP00000395599.1:p.Ile197delinsLysAspVal
ENST00000440967.5:c.589_590insAAGATG	ENSP00000400648.1:p.Ile197delinsLysAspVal
ENST00000621232.4:c.586_587insAAGATG	ENSP00000483686.1:p.Ile196delinsLysAspVal
NM_000402.4:c.676_677insAAGATG	NP_000393.4:p.Ile226delinsLysAspVal
NM_001042351.2:c.586_587insAAGATG	NP_001035810.1:p.Ile196delinsLysAspVal
XM_005274657.2:c.679_680insAAGATG	XP_005274714.1:p.Ile227delinsLysAspVal
XM_005274658.2:c.589_590insAAGATG	XP_005274715.1:p.Ile197delinsLysAspVal
XM_011531132.1:c.679_680insAAGATG	XP_011529434.1:p.Ile227delinsLysAspVal
NM_001360016.2:c.586_587insAAGATG MANE Select	NP_001346945.1:p.Ile196delinsLysAspVal
NM_001042351.3:c.586_587insAAGATG	NP_001035810.1:p.Ile196delinsLysAspVal