Canonical Allele Identifier: CA915951047

Gene: GATA1

Linked Data

• ClinVar Variation Id: 647140
• ClinVar RCV Id: RCV000801573
• dbSNP Id: rs1602219139

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791275_48791296dup , CM000685.2:g.48791275_48791296dup	GRCh38
NC_000023.10:g.48649682_48649703dup , CM000685.1:g.48649682_48649703dup	GRCh37
NC_000023.9:g.48534626_48534647dup	NCBI36
NG_008846.2:g.9702_9723dup , LRG_559:g.9702_9723dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-569_-29-548dup	ENSP00000498550.1:n.-29-569_-29-548dup
ENST00000696450.1:c.166_187dup	ENSP00000512637.1:p.Tyr63CysfsTer12
ENST00000696451.1:c.-29-569_-29-548dup	ENSP00000512638.1:n.-29-569_-29-548dup
ENST00000696452.1:c.-29-569_-29-548dup	ENSP00000512639.1:n.-29-569_-29-548dup
ENST00000376670.9:c.166_187dup MANE Select	ENSP00000365858.3:p.Tyr63CysfsTer12
ENST00000651144.1:c.-29-569_-29-548dup	ENSP00000498550.1:n.-29-569_-29-548dup
ENST00000376665.4:c.166_187dup	ENSP00000365853.3:p.Tyr63CysfsTer12
ENST00000376670.7:c.166_187dup	ENSP00000365858.3:p.Tyr63CysfsTer12
NM_002049.3:c.166_187dup , LRG_559t1:c.166_187dup	NP_002040.1:p.Tyr63CysfsTer12
XM_011543897.1:c.166_187dup	XP_011542199.1:p.Tyr63CysfsTer12
XM_011543898.1:c.-29-569_-29-548dup	XP_011542200.1:n.-29-569_-29-548dup
XM_011543897.2:c.166_187dup	XP_011542199.1:p.Tyr63CysfsTer12
XM_011543898.2:c.-29-569_-29-548dup	XP_011542200.1:n.-29-569_-29-548dup
XM_024452363.1:c.-29-569_-29-548dup	XP_024308131.1:n.-29-569_-29-548dup
NM_002049.4:c.166_187dup MANE Select	NP_002040.1:p.Tyr63CysfsTer12