Canonical Allele Identifier: CA061819

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2912976
• ClinVar RCV Id: RCV003642867
• dbSNP Id: rs761264614
• ExAC: 15:67358717 GGGAC / G
• gnomAD v2: 15-67358717-GGGAC-G
• gnomAD v3: 15-67066379-GGGAC-G
• gnomAD v4: 15-67066379-GGGAC-G
• MyVariant Identifiers: chr15:g.67358718_67358721del (hg19) ; chr15:g.67066380_67066383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066380_67066383del , CM000677.2:g.67066380_67066383del	GRCh38
NC_000015.9:g.67358718_67358721del , CM000677.1:g.67358718_67358721del	GRCh37
NC_000015.8:g.65145772_65145775del	NCBI36
NG_011990.1:g.5524_5527del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2436_-110+2439del	ENSP00000453082.2:n.-110+2436_-110+2439del
ENST00000560424.2:c.206+20_206+23del	ENSP00000455540.2:n.206+20_206+23del
ENST00000327367.9:c.206+20_206+23del MANE Select	ENSP00000332973.4:n.206+20_206+23del
ENST00000327367.8:c.206+20_206+23del	ENSP00000332973.4:n.206+20_206+23del
ENST00000559460.5:c.-110+2436_-110+2439del	ENSP00000453082.1:n.-110+2436_-110+2439del
NM_005902.3:c.206+20_206+23del	NP_005893.1:n.206+20_206+23del
XM_011521559.1:c.206+20_206+23del	XP_011519861.1:n.206+20_206+23del
XM_011521559.3:c.206+20_206+23del	XP_011519861.1:n.206+20_206+23del
NM_005902.4:c.206+20_206+23del MANE Select	NP_005893.1:n.206+20_206+23del