Canonical Allele Identifier: CA2580101158

Gene: GATA1

Linked Data

• ClinVar Variation Id: 2125356
• ClinVar RCV Id: RCV003040071

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791264_48791283dup , CM000685.2:g.48791264_48791283dup	GRCh38
NC_000023.10:g.48649671_48649690dup , CM000685.1:g.48649671_48649690dup	GRCh37
NC_000023.9:g.48534615_48534634dup	NCBI36
NG_008846.2:g.9691_9710dup , LRG_559:g.9691_9710dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.-29-580_-29-561dup	ENSP00000498550.1:n.-29-580_-29-561dup
ENST00000696450.1:c.155_174dup	ENSP00000512637.1:p.Ala59GlnfsTer?
ENST00000696451.1:c.-29-580_-29-561dup	ENSP00000512638.1:n.-29-580_-29-561dup
ENST00000696452.1:c.-29-580_-29-561dup	ENSP00000512639.1:n.-29-580_-29-561dup
ENST00000376670.9:c.155_174dup MANE Select	ENSP00000365858.3:p.Ala59GlnfsTer?
ENST00000651144.1:c.-29-580_-29-561dup	ENSP00000498550.1:n.-29-580_-29-561dup
ENST00000376665.4:c.155_174dup	ENSP00000365853.3:p.Ala59GlnfsTer?
ENST00000376670.7:c.155_174dup	ENSP00000365858.3:p.Ala59GlnfsTer?
NM_002049.3:c.155_174dup , LRG_559t1:c.155_174dup	NP_002040.1:p.Ala59GlnfsTer?
XM_011543897.1:c.155_174dup	XP_011542199.1:p.Ala59GlnfsTer?
XM_011543898.1:c.-29-580_-29-561dup	XP_011542200.1:n.-29-580_-29-561dup
XM_011543897.2:c.155_174dup	XP_011542199.1:p.Ala59GlnfsTer?
XM_011543898.2:c.-29-580_-29-561dup	XP_011542200.1:n.-29-580_-29-561dup
XM_024452363.1:c.-29-580_-29-561dup	XP_024308131.1:n.-29-580_-29-561dup
NM_002049.4:c.155_174dup MANE Select	NP_002040.1:p.Ala59GlnfsTer?