Canonical Allele Identifier: CA645617212

Gene: GATA1

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791854_48791855dup , CM000685.2:g.48791854_48791855dup	GRCh38
NC_000023.10:g.48650261_48650262dup , CM000685.1:g.48650261_48650262dup	GRCh37
NC_000023.9:g.48535205_48535206dup	NCBI36
NG_008846.2:g.10281_10282dup , LRG_559:g.10281_10282dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-19_-18dup	ENSP00000498550.1:n.-19_-18dup
ENST00000696450.1:c.231_232dup	ENSP00000512637.1:p.Tyr78CysfsTer?
ENST00000696451.1:c.-19_-18dup	ENSP00000512638.1:n.-19_-18dup
ENST00000696452.1:c.-19_-18dup	ENSP00000512639.1:n.-19_-18dup
ENST00000376670.9:c.231_232dup MANE Select	ENSP00000365858.3:p.Tyr78CysfsTer?
ENST00000651144.1:c.-19_-18dup	ENSP00000498550.1:n.-19_-18dup
ENST00000376665.4:c.231_232dup	ENSP00000365853.3:p.Tyr78CysfsTer?
ENST00000376670.7:c.231_232dup	ENSP00000365858.3:p.Tyr78CysfsTer?
NM_002049.3:c.231_232dup , LRG_559t1:c.231_232dup	NP_002040.1:p.Tyr78CysfsTer?
XM_011543897.1:c.231_232dup	XP_011542199.1:p.Tyr78CysfsTer?
XM_011543898.1:c.-19_-18dup	XP_011542200.1:n.-19_-18dup
XM_011543897.2:c.231_232dup	XP_011542199.1:p.Tyr78CysfsTer?
XM_011543898.2:c.-19_-18dup	XP_011542200.1:n.-19_-18dup
XM_024452363.1:c.-19_-18dup	XP_024308131.1:n.-19_-18dup
NM_002049.4:c.231_232dup MANE Select	NP_002040.1:p.Tyr78CysfsTer?