Canonical Allele Identifier: CA2573151100

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 1454233
• ClinVar RCV Id: RCV001939438
• dbSNP Id: rs2140188825

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066219_67066225dup , CM000677.2:g.67066219_67066225dup	GRCh38
NC_000015.9:g.67358557_67358563dup , CM000677.1:g.67358557_67358563dup	GRCh37
NC_000015.8:g.65145611_65145617dup	NCBI36
NG_011990.1:g.5363_5369dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2275_-110+2281dup	ENSP00000453082.2:n.-110+2275_-110+2281dup
ENST00000560424.2:c.65_71dup	ENSP00000455540.2:p.Asn24LysfsTer?
ENST00000327367.9:c.65_71dup MANE Select	ENSP00000332973.4:p.Asn24LysfsTer?
ENST00000327367.8:c.65_71dup	ENSP00000332973.4:p.Asn24LysfsTer?
ENST00000559460.5:c.-110+2275_-110+2281dup	ENSP00000453082.1:n.-110+2275_-110+2281dup
NM_005902.3:c.65_71dup	NP_005893.1:p.Asn24LysfsTer?
XM_011521559.1:c.65_71dup	XP_011519861.1:p.Asn24LysfsTer?
XM_011521559.3:c.65_71dup	XP_011519861.1:p.Asn24LysfsTer?
NM_005902.4:c.65_71dup MANE Select	NP_005893.1:p.Asn24LysfsTer?