Canonical Allele Identifier: CA2629114731

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67065963-GGGCCGCGCGCCGAGCCCCGCAGGCTGCAGCGCCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065968_67066002del , CM000677.2:g.67065968_67066002del	GRCh38
NC_000015.9:g.67358306_67358340del , CM000677.1:g.67358306_67358340del	GRCh37
NC_000015.8:g.65145360_65145394del	NCBI36
NG_011990.1:g.5112_5146del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2024_-110+2058del	ENSP00000453082.2:n.-110+2024_-110+2058del
ENST00000560424.2:c.-187_-153del	ENSP00000455540.2:n.-187_-153del
ENST00000327367.9:c.-187_-153del MANE Select	ENSP00000332973.4:n.-187_-153del
ENST00000327367.8:c.-187_-153del	ENSP00000332973.4:n.-187_-153del
ENST00000559460.5:c.-110+2024_-110+2058del	ENSP00000453082.1:n.-110+2024_-110+2058del
NM_005902.3:c.-187_-153del	NP_005893.1:n.-187_-153del
XM_011521559.1:c.-187_-153del	XP_011519861.1:n.-187_-153del
NM_005902.4:c.-187_-153del MANE Select	NP_005893.1:n.-187_-153del