Canonical Allele Identifier: CA645617182

Gene: GATA1

Linked Data

• COSMIC: COSM87886

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791283_48791286delinsTGCGGTGG , CM000685.2:g.48791283_48791286delinsTGCGGTGG	GRCh38
NC_000023.10:g.48649690_48649693delinsTGCGGTGG , CM000685.1:g.48649690_48649693delinsTGCGGTGG	GRCh37
NC_000023.9:g.48534634_48534637delinsTGCGGTGG	NCBI36
NG_008846.2:g.9710_9713delinsTGCGGTGG , LRG_559:g.9710_9713delinsTGCGGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-561_-29-558delinsTGCGGTGG	ENSP00000498550.1:n.-29-561_-29-558delinsTGCGGTGG
ENST00000696450.1:c.174_177delinsTGCGGTGG	ENSP00000512637.1:p.Leu60ValfsTer9
ENST00000696451.1:c.-29-561_-29-558delinsTGCGGTGG	ENSP00000512638.1:n.-29-561_-29-558delinsTGCGGTGG
ENST00000696452.1:c.-29-561_-29-558delinsTGCGGTGG	ENSP00000512639.1:n.-29-561_-29-558delinsTGCGGTGG
ENST00000376670.9:c.174_177delinsTGCGGTGG MANE Select	ENSP00000365858.3:p.Leu60ValfsTer9
ENST00000651144.1:c.-29-561_-29-558delinsTGCGGTGG	ENSP00000498550.1:n.-29-561_-29-558delinsTGCGGTGG
ENST00000376665.4:c.174_177delinsTGCGGTGG	ENSP00000365853.3:p.Leu60ValfsTer9
ENST00000376670.7:c.174_177delinsTGCGGTGG	ENSP00000365858.3:p.Leu60ValfsTer9
NM_002049.3:c.174_177delinsTGCGGTGG , LRG_559t1:c.174_177delinsTGCGGTGG	NP_002040.1:p.Leu60ValfsTer9
XM_011543897.1:c.174_177delinsTGCGGTGG	XP_011542199.1:p.Leu60ValfsTer9
XM_011543898.1:c.-29-561_-29-558delinsTGCGGTGG	XP_011542200.1:n.-29-561_-29-558delinsTGCGGTGG
XM_011543897.2:c.174_177delinsTGCGGTGG	XP_011542199.1:p.Leu60ValfsTer9
XM_011543898.2:c.-29-561_-29-558delinsTGCGGTGG	XP_011542200.1:n.-29-561_-29-558delinsTGCGGTGG
XM_024452363.1:c.-29-561_-29-558delinsTGCGGTGG	XP_024308131.1:n.-29-561_-29-558delinsTGCGGTGG
NM_002049.4:c.174_177delinsTGCGGTGG MANE Select	NP_002040.1:p.Leu60ValfsTer9