Canonical Allele Identifier: CA645617143
Gene: GATA1 HGNC NCBI

Linked Data

COSMIC: COSM18053

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.48791234_48791330del , CM000685.2:g.48791234_48791330del GRCh38
NC_000023.10:g.48649641_48649737del , CM000685.1:g.48649641_48649737del GRCh37
NC_000023.9:g.48534585_48534681del NCBI36
NG_008846.2:g.9661_9757del , LRG_559:g.9661_9757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000651144.2:c.-29-610_-29-514del ENSP00000498550.1:n.-29-610_-29-514del
ENST00000696450.1:c.125_220+1del
ENST00000696451.1:c.-29-610_-29-514del ENSP00000512638.1:n.-29-610_-29-514del
ENST00000696452.1:c.-29-610_-29-514del ENSP00000512639.1:n.-29-610_-29-514del
ENST00000376670.9:c.125_220+1del
ENST00000651144.1:c.-29-610_-29-514del ENSP00000498550.1:n.-29-610_-29-514del
ENST00000376665.4:c.125_220+1del
ENST00000376670.7:c.125_220+1del
NM_002049.3:c.125_220+1del , LRG_559t1:c.125_220+1del
XM_011543897.1:c.125_220+1del
XM_011543898.1:c.-29-610_-29-514del XP_011542200.1:n.-29-610_-29-514del
XM_011543897.2:c.125_220+1del
XM_011543898.2:c.-29-610_-29-514del XP_011542200.1:n.-29-610_-29-514del
XM_024452363.1:c.-29-610_-29-514del XP_024308131.1:n.-29-610_-29-514del
NM_002049.4:c.125_220+1del