Canonical Allele Identifier: CA2674407081

Gene: THBS4

Linked Data

• gnomAD v4: 5-80065436-A-AATGG

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80065438_80065441dup , CM000667.2:g.80065438_80065441dup	GRCh38
NC_000005.9:g.79361261_79361264dup , CM000667.1:g.79361261_79361264dup	GRCh37
NC_000005.8:g.79397017_79397020dup	NCBI36
NG_047084.1:g.79128_79131dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350881.6:c.1155_1158dup MANE Select	ENSP00000339730.2:p.Ala387TrpfsTer11
ENST00000511733.1:c.882_885dup	ENSP00000422298.1:p.Ala296TrpfsTer11
NM_001306212.1:c.882_885dup	NP_001293141.1:p.Ala296TrpfsTer11
NM_001306213.1:c.882_885dup	NP_001293142.1:p.Ala296TrpfsTer11
NM_001306214.1:c.882_885dup	NP_001293143.1:p.Ala296TrpfsTer11
NM_003248.4:c.1155_1158dup	NP_003239.2:p.Ala387TrpfsTer11
NM_003248.5:c.1155_1158dup	NP_003239.2:p.Ala387TrpfsTer11
XM_017009798.2:c.1155_1158dup	XP_016865287.1:p.Ala387TrpfsTer11
XM_017009799.2:c.1155_1158dup	XP_016865288.1:p.Ala387TrpfsTer11
XR_002956176.1:n.1346_1349dup
NM_003248.6:c.1155_1158dup MANE Select	NP_003239.2:p.Ala387TrpfsTer11
NM_001306212.2:c.882_885dup	NP_001293141.1:p.Ala296TrpfsTer11
NM_001306213.2:c.882_885dup	NP_001293142.1:p.Ala296TrpfsTer11
NM_001306214.2:c.882_885dup	NP_001293143.1:p.Ala296TrpfsTer11