Canonical Allele Identifier: CA618961965

Gene: SMAD3

Linked Data

• ClinVar Variation Id: 2798040
• ClinVar RCV Id: RCV003643323
• dbSNP Id: rs777133644
• gnomAD v2: 15-67358712-CG-C
• gnomAD v4: 15-67066374-CG-C
• COSMIC: COSN18738814
• MyVariant Identifiers: chr15:g.67358713del (hg19) ; chr15:g.67066375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066381del , CM000677.2:g.67066381del	GRCh38
NC_000015.9:g.67358719del , CM000677.1:g.67358719del	GRCh37
NC_000015.8:g.65145773del	NCBI36
NG_011990.1:g.5525del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2437del	ENSP00000453082.2:n.-110+2437del
ENST00000560424.2:c.206+21del	ENSP00000455540.2:n.206+21del
ENST00000327367.9:c.206+21del MANE Select	ENSP00000332973.4:n.206+21del
ENST00000327367.8:c.206+21del	ENSP00000332973.4:n.206+21del
ENST00000559460.5:c.-110+2437del	ENSP00000453082.1:n.-110+2437del
NM_005902.3:c.206+21del	NP_005893.1:n.206+21del
XM_011521559.1:c.206+21del	XP_011519861.1:n.206+21del
XM_011521559.3:c.206+21del	XP_011519861.1:n.206+21del
NM_005902.4:c.206+21del MANE Select	NP_005893.1:n.206+21del