Canonical Allele Identifier: CA645617162

Gene: GATA1

Linked Data

• COSMIC: COSM18043

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791267_48791289del , CM000685.2:g.48791267_48791289del	GRCh38
NC_000023.10:g.48649674_48649696del , CM000685.1:g.48649674_48649696del	GRCh37
NC_000023.9:g.48534618_48534640del	NCBI36
NG_008846.2:g.9694_9716del , LRG_559:g.9694_9716del

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.-29-577_-29-555del	ENSP00000498550.1:n.-29-577_-29-555del
ENST00000696450.1:c.158_180del	ENSP00000512637.1:p.Ala53GlyfsTer7
ENST00000696451.1:c.-29-577_-29-555del	ENSP00000512638.1:n.-29-577_-29-555del
ENST00000696452.1:c.-29-577_-29-555del	ENSP00000512639.1:n.-29-577_-29-555del
ENST00000376670.9:c.158_180del MANE Select	ENSP00000365858.3:p.Ala53GlyfsTer7
ENST00000651144.1:c.-29-577_-29-555del	ENSP00000498550.1:n.-29-577_-29-555del
ENST00000376665.4:c.158_180del	ENSP00000365853.3:p.Ala53GlyfsTer7
ENST00000376670.7:c.158_180del	ENSP00000365858.3:p.Ala53GlyfsTer7
NM_002049.3:c.158_180del , LRG_559t1:c.158_180del	NP_002040.1:p.Ala53GlyfsTer7
XM_011543897.1:c.158_180del	XP_011542199.1:p.Ala53GlyfsTer7
XM_011543898.1:c.-29-577_-29-555del	XP_011542200.1:n.-29-577_-29-555del
XM_011543897.2:c.158_180del	XP_011542199.1:p.Ala53GlyfsTer7
XM_011543898.2:c.-29-577_-29-555del	XP_011542200.1:n.-29-577_-29-555del
XM_024452363.1:c.-29-577_-29-555del	XP_024308131.1:n.-29-577_-29-555del
NM_002049.4:c.158_180del MANE Select	NP_002040.1:p.Ala53GlyfsTer7