Canonical Allele Identifier: CA248608
Gene: GATA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10429
ClinVar RCV Id: RCV000011174 RCV001851786
dbSNP Id: rs398124628
MyVariant Identifiers: chrX:g.48649670_48649689dup20 (hg19) chrX:g.48791263_48791282dup20 (hg38)
PubMed: PMID:15070711
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791263_48791282dup , CM000685.2:g.48791263_48791282dup GRCh38
NC_000023.10:g.48649670_48649689dup , CM000685.1:g.48649670_48649689dup GRCh37
NC_000023.9:g.48534614_48534633dup NCBI36
NG_008846.2:g.9690_9709dup , LRG_559:g.9690_9709dup

Transcript Alleles

HGVS Amino-acid change
ENST00000651144.2:c.-29-581_-29-562dup ENSP00000498550.1:n.-29-581_-29-562dup
ENST00000696450.1:c.154_173dup ENSP00000512637.1:p.Ala59GlnfsTer?
ENST00000696451.1:c.-29-581_-29-562dup ENSP00000512638.1:n.-29-581_-29-562dup
ENST00000696452.1:c.-29-581_-29-562dup ENSP00000512639.1:n.-29-581_-29-562dup
ENST00000376670.9:c.154_173dup MANE Select ENSP00000365858.3:p.Ala59GlnfsTer?
ENST00000651144.1:c.-29-581_-29-562dup ENSP00000498550.1:n.-29-581_-29-562dup
ENST00000376665.4:c.154_173dup ENSP00000365853.3:p.Ala59GlnfsTer?
ENST00000376670.7:c.154_173dup ENSP00000365858.3:p.Ala59GlnfsTer?
NM_002049.3:c.154_173dup , LRG_559t1:c.154_173dup NP_002040.1:p.Ala59GlnfsTer?
XM_011543897.1:c.154_173dup XP_011542199.1:p.Ala59GlnfsTer?
XM_011543898.1:c.-29-581_-29-562dup XP_011542200.1:n.-29-581_-29-562dup
XM_011543897.2:c.154_173dup XP_011542199.1:p.Ala59GlnfsTer?
XM_011543898.2:c.-29-581_-29-562dup XP_011542200.1:n.-29-581_-29-562dup
XM_024452363.1:c.-29-581_-29-562dup XP_024308131.1:n.-29-581_-29-562dup
NM_002049.4:c.154_173dup MANE Select NP_002040.1:p.Ala59GlnfsTer?
Search 100 bp 5'
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