Canonical Allele Identifier: CA641901872

Gene: GATA1

Linked Data

• dbSNP Id: rs1557020288
• gnomAD v2: X-48650696-G-GCCTA
• gnomAD v3: X-48792289-G-GCCTA
• gnomAD v4: X-48792289-G-GCCTA
• MyVariant Identifiers: chrX:g.48650696_48650697insCCTA (hg19) ; chrX:g.48792289_48792290insCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48792290_48792293dup , CM000685.2:g.48792290_48792293dup	GRCh38
NC_000023.10:g.48650697_48650700dup , CM000685.1:g.48650697_48650700dup	GRCh37
NC_000023.9:g.48535641_48535644dup	NCBI36
NG_008846.2:g.10717_10720dup , LRG_559:g.10717_10720dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651144.2:c.350-33_350-30dup	ENSP00000498550.1:n.350-33_350-30dup
ENST00000696450.1:c.599-33_599-30dup	ENSP00000512637.1:n.599-33_599-30dup
ENST00000696451.1:c.350-33_350-30dup	ENSP00000512638.1:n.350-33_350-30dup
ENST00000696452.1:c.350-33_350-30dup	ENSP00000512639.1:n.350-33_350-30dup
ENST00000376670.9:c.599-33_599-30dup MANE Select	ENSP00000365858.3:n.599-33_599-30dup
ENST00000651144.1:c.350-33_350-30dup	ENSP00000498550.1:n.350-33_350-30dup
ENST00000376665.4:c.599-33_599-30dup	ENSP00000365853.3:n.599-33_599-30dup
ENST00000376670.7:c.599-33_599-30dup	ENSP00000365858.3:n.599-33_599-30dup
NM_002049.3:c.599-33_599-30dup , LRG_559t1:c.599-33_599-30dup	NP_002040.1:n.599-33_599-30dup
XM_011543897.1:c.599-33_599-30dup	XP_011542199.1:n.599-33_599-30dup
XM_011543898.1:c.350-33_350-30dup	XP_011542200.1:n.350-33_350-30dup
XM_011543897.2:c.599-33_599-30dup	XP_011542199.1:n.599-33_599-30dup
XM_011543898.2:c.350-33_350-30dup	XP_011542200.1:n.350-33_350-30dup
XM_024452363.1:c.350-33_350-30dup	XP_024308131.1:n.350-33_350-30dup
NM_002049.4:c.599-33_599-30dup MANE Select	NP_002040.1:n.599-33_599-30dup