Canonical Allele Identifier: CA2629122349

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67192764-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67192772_67192773dup , CM000677.2:g.67192772_67192773dup	GRCh38
NC_000015.9:g.67485110_67485111dup , CM000677.1:g.67485110_67485111dup	GRCh37
NC_000015.8:g.65272164_65272165dup	NCBI36
NG_011990.1:g.131916_131917dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558739.2:c.*2236_*2237dup	ENSP00000453684.2:n.*2236_*2237dup
ENST00000559460.6:c.*2236_*2237dup	ENSP00000453082.2:n.*2236_*2237dup
ENST00000327367.9:c.*2236_*2237dup MANE Select	ENSP00000332973.4:n.*2236_*2237dup
ENST00000679624.1:c.*2236_*2237dup	ENSP00000505445.1:n.*2236_*2237dup
ENST00000681239.1:c.*2236_*2237dup	ENSP00000505641.1:n.*2236_*2237dup
ENST00000327367.8:c.*2236_*2237dup	ENSP00000332973.4:n.*2236_*2237dup
ENST00000560402.1:n.283-101_283-100dup
NM_001145102.1:c.*2236_*2237dup	NP_001138574.1:n.*2236_*2237dup
NM_001145103.1:c.*2236_*2237dup	NP_001138575.1:n.*2236_*2237dup
NM_001145104.1:c.*2236_*2237dup	NP_001138576.1:n.*2236_*2237dup
NM_005902.3:c.*2236_*2237dup	NP_005893.1:n.*2236_*2237dup
XM_011521559.1:c.*2236_*2237dup	XP_011519861.1:n.*2236_*2237dup
XM_011521560.1:c.*2236_*2237dup	XP_011519862.1:n.*2236_*2237dup
XM_011521559.3:c.*2236_*2237dup	XP_011519861.1:n.*2236_*2237dup
NM_005902.4:c.*2236_*2237dup MANE Select	NP_005893.1:n.*2236_*2237dup
NM_001145102.2:c.*2236_*2237dup	NP_001138574.1:n.*2236_*2237dup
NM_001145103.2:c.*2236_*2237dup	NP_001138575.1:n.*2236_*2237dup
NM_001145104.2:c.*2236_*2237dup	NP_001138576.1:n.*2236_*2237dup