Canonical Allele Identifier: CA2629115098

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066494-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066498_67066499del , CM000677.2:g.67066498_67066499del	GRCh38
NC_000015.9:g.67358836_67358837del , CM000677.1:g.67358836_67358837del	GRCh37
NC_000015.8:g.65145890_65145891del	NCBI36
NG_011990.1:g.5642_5643del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2554_-110+2555del	ENSP00000453082.2:n.-110+2554_-110+2555del
ENST00000560424.2:c.206+138_206+139del	ENSP00000455540.2:n.206+138_206+139del
ENST00000327367.9:c.206+138_206+139del MANE Select	ENSP00000332973.4:n.206+138_206+139del
ENST00000327367.8:c.206+138_206+139del	ENSP00000332973.4:n.206+138_206+139del
ENST00000559460.5:c.-110+2554_-110+2555del	ENSP00000453082.1:n.-110+2554_-110+2555del
NM_005902.3:c.206+138_206+139del	NP_005893.1:n.206+138_206+139del
XM_011521559.1:c.206+138_206+139del	XP_011519861.1:n.206+138_206+139del
XM_011521559.3:c.206+138_206+139del	XP_011519861.1:n.206+138_206+139del
NM_005902.4:c.206+138_206+139del MANE Select	NP_005893.1:n.206+138_206+139del