Canonical Allele Identifier: CA645617148

Gene: GATA1

Linked Data

• COSMIC: COSM17827

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791249_48791283del , CM000685.2:g.48791249_48791283del	GRCh38
NC_000023.10:g.48649656_48649690del , CM000685.1:g.48649656_48649690del	GRCh37
NC_000023.9:g.48534600_48534634del	NCBI36
NG_008846.2:g.9676_9710del , LRG_559:g.9676_9710del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.-29-595_-29-561del	ENSP00000498550.1:n.-29-595_-29-561del
ENST00000696450.1:c.140_174del	ENSP00000512637.1:p.Ser47CysfsTer9
ENST00000696451.1:c.-29-595_-29-561del	ENSP00000512638.1:n.-29-595_-29-561del
ENST00000696452.1:c.-29-595_-29-561del	ENSP00000512639.1:n.-29-595_-29-561del
ENST00000376670.9:c.140_174del MANE Select	ENSP00000365858.3:p.Ser47CysfsTer9
ENST00000651144.1:c.-29-595_-29-561del	ENSP00000498550.1:n.-29-595_-29-561del
ENST00000376665.4:c.140_174del	ENSP00000365853.3:p.Ser47CysfsTer9
ENST00000376670.7:c.140_174del	ENSP00000365858.3:p.Ser47CysfsTer9
NM_002049.3:c.140_174del , LRG_559t1:c.140_174del	NP_002040.1:p.Ser47CysfsTer9
XM_011543897.1:c.140_174del	XP_011542199.1:p.Ser47CysfsTer9
XM_011543898.1:c.-29-595_-29-561del	XP_011542200.1:n.-29-595_-29-561del
XM_011543897.2:c.140_174del	XP_011542199.1:p.Ser47CysfsTer9
XM_011543898.2:c.-29-595_-29-561del	XP_011542200.1:n.-29-595_-29-561del
XM_024452363.1:c.-29-595_-29-561del	XP_024308131.1:n.-29-595_-29-561del
NM_002049.4:c.140_174del MANE Select	NP_002040.1:p.Ser47CysfsTer9