Canonical Allele Identifier: CA2428390270

Gene: GATA1

Linked Data

• ClinVar Variation Id: 998066
• ClinVar RCV Id: RCV001293755
• dbSNP Id: rs2062674253

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791284_48791302dup , CM000685.2:g.48791284_48791302dup	GRCh38
NC_000023.10:g.48649691_48649709dup , CM000685.1:g.48649691_48649709dup	GRCh37
NC_000023.9:g.48534635_48534653dup	NCBI36
NG_008846.2:g.9711_9729dup , LRG_559:g.9711_9729dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.-29-560_-29-542dup	ENSP00000498550.1:n.-29-560_-29-542dup
ENST00000696450.1:c.175_193dup	ENSP00000512637.1:p.Asp65GlyfsTer9
ENST00000696451.1:c.-29-560_-29-542dup	ENSP00000512638.1:n.-29-560_-29-542dup
ENST00000696452.1:c.-29-560_-29-542dup	ENSP00000512639.1:n.-29-560_-29-542dup
ENST00000376670.9:c.175_193dup MANE Select	ENSP00000365858.3:p.Asp65GlyfsTer9
ENST00000651144.1:c.-29-560_-29-542dup	ENSP00000498550.1:n.-29-560_-29-542dup
ENST00000376665.4:c.175_193dup	ENSP00000365853.3:p.Asp65GlyfsTer9
ENST00000376670.7:c.175_193dup	ENSP00000365858.3:p.Asp65GlyfsTer9
NM_002049.3:c.175_193dup , LRG_559t1:c.175_193dup	NP_002040.1:p.Asp65GlyfsTer9
XM_011543897.1:c.175_193dup	XP_011542199.1:p.Asp65GlyfsTer9
XM_011543898.1:c.-29-560_-29-542dup	XP_011542200.1:n.-29-560_-29-542dup
XM_011543897.2:c.175_193dup	XP_011542199.1:p.Asp65GlyfsTer9
XM_011543898.2:c.-29-560_-29-542dup	XP_011542200.1:n.-29-560_-29-542dup
XM_024452363.1:c.-29-560_-29-542dup	XP_024308131.1:n.-29-560_-29-542dup
NM_002049.4:c.175_193dup MANE Select	NP_002040.1:p.Asp65GlyfsTer9