Canonical Allele Identifier: CA3324127

Gene: THBS4

Linked Data

• dbSNP Id: rs749637403
• ExAC: 5:79361300 G / GGTAA
• gnomAD v2: 5-79361300-G-GGTAA
• gnomAD v4: 5-80065477-G-GGTAA
• MyVariant Identifiers: chr5:g.79361300_79361301insGTAA (hg19) ; chr5:g.80065477_80065478insGTAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065481_80065484dup , CM000667.2:g.80065481_80065484dup	GRCh38
NC_000005.9:g.79361304_79361307dup , CM000667.1:g.79361304_79361307dup	GRCh37
NC_000005.8:g.79397060_79397063dup	NCBI36
NG_047084.1:g.79171_79174dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1194+4_1194+7dup MANE Select	ENSP00000339730.2:n.1194+4_1194+7dup
ENST00000511733.1:c.921+4_921+7dup	ENSP00000422298.1:n.921+4_921+7dup
NM_001306212.1:c.921+4_921+7dup	NP_001293141.1:n.921+4_921+7dup
NM_001306213.1:c.921+4_921+7dup	NP_001293142.1:n.921+4_921+7dup
NM_001306214.1:c.921+4_921+7dup	NP_001293143.1:n.921+4_921+7dup
NM_003248.4:c.1194+4_1194+7dup	NP_003239.2:n.1194+4_1194+7dup
NM_003248.5:c.1194+4_1194+7dup	NP_003239.2:n.1194+4_1194+7dup
XM_017009798.2:c.1194+4_1194+7dup	XP_016865287.1:n.1194+4_1194+7dup
XM_017009799.2:c.1194+4_1194+7dup	XP_016865288.1:n.1194+4_1194+7dup
XR_002956176.1:n.1385+4_1385+7dup
NM_003248.6:c.1194+4_1194+7dup MANE Select	NP_003239.2:n.1194+4_1194+7dup
NM_001306212.2:c.921+4_921+7dup	NP_001293141.1:n.921+4_921+7dup
NM_001306213.2:c.921+4_921+7dup	NP_001293142.1:n.921+4_921+7dup
NM_001306214.2:c.921+4_921+7dup	NP_001293143.1:n.921+4_921+7dup