Canonical Allele Identifier: CA645617183

Gene: GATA1

Linked Data

• COSMIC: COSM13176

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48791287_48791288insAGCCACCGCTGCAGCTGCAC , CM000685.2:g.48791287_48791288insAGCCACCGCTGCAGCTGCAC	GRCh38
NC_000023.10:g.48649694_48649695insAGCCACCGCTGCAGCTGCAC , CM000685.1:g.48649694_48649695insAGCCACCGCTGCAGCTGCAC	GRCh37
NC_000023.9:g.48534638_48534639insAGCCACCGCTGCAGCTGCAC	NCBI36
NG_008846.2:g.9714_9715insAGCCACCGCTGCAGCTGCAC , LRG_559:g.9714_9715insAGCCACCGCTGCAGCTGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	ENSP00000498550.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
ENST00000696450.1:c.178_179insAGCCACCGCTGCAGCTGCAC	ENSP00000512637.1:p.Leu60GlnfsTer?
ENST00000696451.1:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	ENSP00000512638.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
ENST00000696452.1:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	ENSP00000512639.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
ENST00000376670.9:c.178_179insAGCCACCGCTGCAGCTGCAC MANE Select	ENSP00000365858.3:p.Leu60GlnfsTer?
ENST00000651144.1:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	ENSP00000498550.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
ENST00000376665.4:c.178_179insAGCCACCGCTGCAGCTGCAC	ENSP00000365853.3:p.Leu60GlnfsTer?
ENST00000376670.7:c.178_179insAGCCACCGCTGCAGCTGCAC	ENSP00000365858.3:p.Leu60GlnfsTer?
NM_002049.3:c.178_179insAGCCACCGCTGCAGCTGCAC , LRG_559t1:c.178_179insAGCCACCGCTGCAGCTGCAC	NP_002040.1:p.Leu60GlnfsTer?
XM_011543897.1:c.178_179insAGCCACCGCTGCAGCTGCAC	XP_011542199.1:p.Leu60GlnfsTer?
XM_011543898.1:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	XP_011542200.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
XM_011543897.2:c.178_179insAGCCACCGCTGCAGCTGCAC	XP_011542199.1:p.Leu60GlnfsTer?
XM_011543898.2:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	XP_011542200.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
XM_024452363.1:c.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC	XP_024308131.1:n.-29-557_-29-556insAGCCACCGCTGCAGCTGCAC
NM_002049.4:c.178_179insAGCCACCGCTGCAGCTGCAC MANE Select	NP_002040.1:p.Leu60GlnfsTer?