Canonical Allele Identifier: CA2629114831

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066041-GAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066042_67066043del , CM000677.2:g.67066042_67066043del	GRCh38
NC_000015.9:g.67358380_67358381del , CM000677.1:g.67358380_67358381del	GRCh37
NC_000015.8:g.65145434_65145435del	NCBI36
NG_011990.1:g.5186_5187del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2098_-110+2099del	ENSP00000453082.2:n.-110+2098_-110+2099del
ENST00000560424.2:c.-113_-112del	ENSP00000455540.2:n.-113_-112del
ENST00000327367.9:c.-113_-112del MANE Select	ENSP00000332973.4:n.-113_-112del
ENST00000327367.8:c.-113_-112del	ENSP00000332973.4:n.-113_-112del
ENST00000559460.5:c.-110+2098_-110+2099del	ENSP00000453082.1:n.-110+2098_-110+2099del
NM_005902.3:c.-113_-112del	NP_005893.1:n.-113_-112del
XM_011521559.1:c.-113_-112del	XP_011519861.1:n.-113_-112del
NM_005902.4:c.-113_-112del MANE Select	NP_005893.1:n.-113_-112del