Canonical Allele Identifier: CA645617174

Gene: GATA1

Linked Data

• COSMIC: COSM5886007

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791272_48791290dup , CM000685.2:g.48791272_48791290dup	GRCh38
NC_000023.10:g.48649679_48649697dup , CM000685.1:g.48649679_48649697dup	GRCh37
NC_000023.9:g.48534623_48534641dup	NCBI36
NG_008846.2:g.9699_9717dup , LRG_559:g.9699_9717dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-572_-29-554dup	ENSP00000498550.1:n.-29-572_-29-554dup
ENST00000696450.1:c.163_181dup	ENSP00000512637.1:p.Ala61GlyfsTer13
ENST00000696451.1:c.-29-572_-29-554dup	ENSP00000512638.1:n.-29-572_-29-554dup
ENST00000696452.1:c.-29-572_-29-554dup	ENSP00000512639.1:n.-29-572_-29-554dup
ENST00000376670.9:c.163_181dup MANE Select	ENSP00000365858.3:p.Ala61GlyfsTer13
ENST00000651144.1:c.-29-572_-29-554dup	ENSP00000498550.1:n.-29-572_-29-554dup
ENST00000376665.4:c.163_181dup	ENSP00000365853.3:p.Ala61GlyfsTer13
ENST00000376670.7:c.163_181dup	ENSP00000365858.3:p.Ala61GlyfsTer13
NM_002049.3:c.163_181dup , LRG_559t1:c.163_181dup	NP_002040.1:p.Ala61GlyfsTer13
XM_011543897.1:c.163_181dup	XP_011542199.1:p.Ala61GlyfsTer13
XM_011543898.1:c.-29-572_-29-554dup	XP_011542200.1:n.-29-572_-29-554dup
XM_011543897.2:c.163_181dup	XP_011542199.1:p.Ala61GlyfsTer13
XM_011543898.2:c.-29-572_-29-554dup	XP_011542200.1:n.-29-572_-29-554dup
XM_024452363.1:c.-29-572_-29-554dup	XP_024308131.1:n.-29-572_-29-554dup
NM_002049.4:c.163_181dup MANE Select	NP_002040.1:p.Ala61GlyfsTer13