Canonical Allele Identifier: CA580031760

Gene: GATA4

Linked Data

• dbSNP Id: rs1481467549
• gnomAD v2: 8-11615984-A-ATCTTCCC
• gnomAD v4: 8-11758475-A-ATCTTCCC
• MyVariant Identifiers: chr8:g.11615984_11615985insTCTTCCC (hg19) ; chr8:g.11758475_11758476insTCTTCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.11758485_11758491dup , CM000670.2:g.11758485_11758491dup	GRCh38
NC_000008.10:g.11615994_11616000dup , CM000670.1:g.11615994_11616000dup	GRCh37
NC_000008.9:g.11653403_11653409dup	NCBI36
NG_008177.2:g.86567_86573dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000622443.3:c.*10_*16dup	ENSP00000482268.2:n.*10_*16dup
ENST00000532059.6:c.*10_*16dup MANE Select	ENSP00000435712.1:n.*10_*16dup
ENST00000335135.8:c.*10_*16dup	ENSP00000334458.4:n.*10_*16dup
ENST00000526021.1:n.784_790dup
ENST00000528712.5:c.*10_*16dup	ENSP00000435043.1:n.*10_*16dup
ENST00000532059.5:c.*10_*16dup	ENSP00000435712.1:n.*10_*16dup
ENST00000622443.2:c.1336_1342dup	ENSP00000482268.1:n.1336_1342dup
NM_001308093.1:c.*10_*16dup	NP_001295022.1:n.*10_*16dup
NM_001308094.1:c.*10_*16dup	NP_001295023.1:n.*10_*16dup
NM_002052.3:c.*10_*16dup	NP_002043.2:n.*10_*16dup
NM_002052.4:c.*10_*16dup	NP_002043.2:n.*10_*16dup
XM_005272385.3:c.*10_*16dup	XP_005272442.1:n.*10_*16dup
XM_005272386.1:c.*10_*16dup	XP_005272443.1:n.*10_*16dup
XM_006716248.1:c.*10_*16dup	XP_006716311.1:n.*10_*16dup
XM_011543817.1:c.*10_*16dup	XP_011542119.1:n.*10_*16dup
XM_011543818.1:c.*10_*16dup	XP_011542120.1:n.*10_*16dup
XM_005272385.4:c.*10_*16dup	XP_005272442.1:n.*10_*16dup
XM_011543817.3:c.*10_*16dup	XP_011542119.1:n.*10_*16dup
XM_011543818.2:c.*10_*16dup	XP_011542120.1:n.*10_*16dup
XM_017013312.2:c.*10_*16dup	XP_016868801.1:n.*10_*16dup
NM_001308093.3:c.*10_*16dup MANE Select	NP_001295022.1:n.*10_*16dup
NM_001308094.2:c.*10_*16dup	NP_001295023.1:n.*10_*16dup
NM_001374273.1:c.*10_*16dup	NP_001361202.1:n.*10_*16dup
NM_001374274.1:c.*10_*16dup	NP_001361203.1:n.*10_*16dup
NM_002052.5:c.*10_*16dup	NP_002043.2:n.*10_*16dup