Canonical Allele Identifier: CA121068
Gene: GATA1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791293_48791296dup , CM000685.2:g.48791293_48791296dup GRCh38
NC_000023.10:g.48649700_48649703dup , CM000685.1:g.48649700_48649703dup GRCh37
NC_000023.9:g.48534644_48534647dup NCBI36
NG_008846.2:g.9720_9723dup , LRG_559:g.9720_9723dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.-29-551_-29-548dup ENSP00000498550.1:n.-29-551_-29-548dup
ENST00000696450.1:c.184_187dup ENSP00000512637.1:p.Tyr63LeufsTer6
ENST00000696451.1:c.-29-551_-29-548dup ENSP00000512638.1:n.-29-551_-29-548dup
ENST00000696452.1:c.-29-551_-29-548dup ENSP00000512639.1:n.-29-551_-29-548dup
ENST00000376670.9:c.184_187dup MANE Select ENSP00000365858.3:p.Tyr63LeufsTer6
ENST00000651144.1:c.-29-551_-29-548dup ENSP00000498550.1:n.-29-551_-29-548dup
ENST00000376665.4:c.184_187dup ENSP00000365853.3:p.Tyr63LeufsTer6
ENST00000376670.7:c.184_187dup ENSP00000365858.3:p.Tyr63LeufsTer6
NM_002049.3:c.184_187dup , LRG_559t1:c.184_187dup NP_002040.1:p.Tyr63LeufsTer6
XM_011543897.1:c.184_187dup XP_011542199.1:p.Tyr63LeufsTer6
XM_011543898.1:c.-29-551_-29-548dup XP_011542200.1:n.-29-551_-29-548dup
XM_011543897.2:c.184_187dup XP_011542199.1:p.Tyr63LeufsTer6
XM_011543898.2:c.-29-551_-29-548dup XP_011542200.1:n.-29-551_-29-548dup
XM_024452363.1:c.-29-551_-29-548dup XP_024308131.1:n.-29-551_-29-548dup
NM_002049.4:c.184_187dup MANE Select NP_002040.1:p.Tyr63LeufsTer6
Search 100 bp 5'
Search 100 bp 3'