Canonical Allele Identifier: CA970972223

Gene: SMAD3

Linked Data

• dbSNP Id: rs1959900029
• gnomAD v3: 15-67065874-CCCGCGTTCGGGGCCT-C
• gnomAD v4: 15-67065874-CCCGCGTTCGGGGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065875_67065889del , CM000677.2:g.67065875_67065889del	GRCh38
NC_000015.9:g.67358213_67358227del , CM000677.1:g.67358213_67358227del	GRCh37
NC_000015.8:g.65145267_65145281del	NCBI36
NG_011990.1:g.5019_5033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1931_-110+1945del	ENSP00000453082.2:n.-110+1931_-110+1945del
ENST00000560424.2:c.-280_-266del	ENSP00000455540.2:n.-280_-266del
ENST00000327367.9:c.-280_-266del MANE Select	ENSP00000332973.4:n.-280_-266del
ENST00000327367.8:c.-280_-266del	ENSP00000332973.4:n.-280_-266del
ENST00000559460.5:c.-110+1931_-110+1945del	ENSP00000453082.1:n.-110+1931_-110+1945del
NM_005902.3:c.-280_-266del	NP_005893.1:n.-280_-266del
XM_011521559.1:c.-280_-266del	XP_011519861.1:n.-280_-266del
NM_005902.4:c.-280_-266del MANE Select	NP_005893.1:n.-280_-266del