Canonical Allele Identifier: CA715074444

Gene: SMAD3

Linked Data

• dbSNP Id: rs1214545593
• gnomAD v3: 15-67066403-G-GC
• gnomAD v4: 15-67066403-G-GC
• MyVariant Identifiers: chr15:g.67358741_67358742insC (hg19) ; chr15:g.67066403_67066404insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066408dup , CM000677.2:g.67066408dup	GRCh38
NC_000015.9:g.67358746dup , CM000677.1:g.67358746dup	GRCh37
NC_000015.8:g.65145800dup	NCBI36
NG_011990.1:g.5552dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2464dup	ENSP00000453082.2:n.-110+2464dup
ENST00000560424.2:c.206+48dup	ENSP00000455540.2:n.206+48dup
ENST00000327367.9:c.206+48dup MANE Select	ENSP00000332973.4:n.206+48dup
ENST00000327367.8:c.206+48dup	ENSP00000332973.4:n.206+48dup
ENST00000559460.5:c.-110+2464dup	ENSP00000453082.1:n.-110+2464dup
NM_005902.3:c.206+48dup	NP_005893.1:n.206+48dup
XM_011521559.1:c.206+48dup	XP_011519861.1:n.206+48dup
XM_011521559.3:c.206+48dup	XP_011519861.1:n.206+48dup
NM_005902.4:c.206+48dup MANE Select	NP_005893.1:n.206+48dup