Canonical Allele Identifier: CA645617184

Gene: GATA1

Linked Data

• COSMIC: COSM87885

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791283_48791284insCTGCAGC , CM000685.2:g.48791283_48791284insCTGCAGC	GRCh38
NC_000023.10:g.48649690_48649691insCTGCAGC , CM000685.1:g.48649690_48649691insCTGCAGC	GRCh37
NC_000023.9:g.48534634_48534635insCTGCAGC	NCBI36
NG_008846.2:g.9710_9711insCTGCAGC , LRG_559:g.9710_9711insCTGCAGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000651144.2:c.-29-561_-29-560insCTGCAGC	ENSP00000498550.1:n.-29-561_-29-560insCTGCAGC
ENST00000696450.1:c.174_175insCTGCAGC	ENSP00000512637.1:p.Ala59LeufsTer11
ENST00000696451.1:c.-29-561_-29-560insCTGCAGC	ENSP00000512638.1:n.-29-561_-29-560insCTGCAGC
ENST00000696452.1:c.-29-561_-29-560insCTGCAGC	ENSP00000512639.1:n.-29-561_-29-560insCTGCAGC
ENST00000376670.9:c.174_175insCTGCAGC MANE Select	ENSP00000365858.3:p.Ala59LeufsTer11
ENST00000651144.1:c.-29-561_-29-560insCTGCAGC	ENSP00000498550.1:n.-29-561_-29-560insCTGCAGC
ENST00000376665.4:c.174_175insCTGCAGC	ENSP00000365853.3:p.Ala59LeufsTer11
ENST00000376670.7:c.174_175insCTGCAGC	ENSP00000365858.3:p.Ala59LeufsTer11
NM_002049.3:c.174_175insCTGCAGC , LRG_559t1:c.174_175insCTGCAGC	NP_002040.1:p.Ala59LeufsTer11
XM_011543897.1:c.174_175insCTGCAGC	XP_011542199.1:p.Ala59LeufsTer11
XM_011543898.1:c.-29-561_-29-560insCTGCAGC	XP_011542200.1:n.-29-561_-29-560insCTGCAGC
XM_011543897.2:c.174_175insCTGCAGC	XP_011542199.1:p.Ala59LeufsTer11
XM_011543898.2:c.-29-561_-29-560insCTGCAGC	XP_011542200.1:n.-29-561_-29-560insCTGCAGC
XM_024452363.1:c.-29-561_-29-560insCTGCAGC	XP_024308131.1:n.-29-561_-29-560insCTGCAGC
NM_002049.4:c.174_175insCTGCAGC MANE Select	NP_002040.1:p.Ala59LeufsTer11