Canonical Allele Identifier: CA2428390257

Gene: GATA1

Linked Data

• ClinVar Variation Id: 998064
• ClinVar RCV Id: RCV001293753
• dbSNP Id: rs2062674043

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791260_48791295delinsT , CM000685.2:g.48791260_48791295delinsT	GRCh38
NC_000023.10:g.48649667_48649702delinsT , CM000685.1:g.48649667_48649702delinsT	GRCh37
NC_000023.9:g.48534611_48534646delinsT	NCBI36
NG_008846.2:g.9687_9722delinsT , LRG_559:g.9687_9722delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-584_-29-549delinsT	ENSP00000498550.1:n.-29-584_-29-549delinsT
ENST00000696450.1:c.151_186delinsT	ENSP00000512637.1:p.Ser51LeufsTer5
ENST00000696451.1:c.-29-584_-29-549delinsT	ENSP00000512638.1:n.-29-584_-29-549delinsT
ENST00000696452.1:c.-29-584_-29-549delinsT	ENSP00000512639.1:n.-29-584_-29-549delinsT
ENST00000376670.9:c.151_186delinsT MANE Select	ENSP00000365858.3:p.Ser51LeufsTer5
ENST00000651144.1:c.-29-584_-29-549delinsT	ENSP00000498550.1:n.-29-584_-29-549delinsT
ENST00000376665.4:c.151_186delinsT	ENSP00000365853.3:p.Ser51LeufsTer5
ENST00000376670.7:c.151_186delinsT	ENSP00000365858.3:p.Ser51LeufsTer5
NM_002049.3:c.151_186delinsT , LRG_559t1:c.151_186delinsT	NP_002040.1:p.Ser51LeufsTer5
XM_011543897.1:c.151_186delinsT	XP_011542199.1:p.Ser51LeufsTer5
XM_011543898.1:c.-29-584_-29-549delinsT	XP_011542200.1:n.-29-584_-29-549delinsT
XM_011543897.2:c.151_186delinsT	XP_011542199.1:p.Ser51LeufsTer5
XM_011543898.2:c.-29-584_-29-549delinsT	XP_011542200.1:n.-29-584_-29-549delinsT
XM_024452363.1:c.-29-584_-29-549delinsT	XP_024308131.1:n.-29-584_-29-549delinsT
NM_002049.4:c.151_186delinsT MANE Select	NP_002040.1:p.Ser51LeufsTer5