Canonical Allele Identifier: CA272431565

Gene: SMAD3

Linked Data

• dbSNP Id: rs942596829
• MyVariant Identifiers: chr15:g.67358814_67358815del (hg19) ; chr15:g.67066476_67066477del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066480_67066481del , CM000677.2:g.67066480_67066481del	GRCh38
NC_000015.9:g.67358818_67358819del , CM000677.1:g.67358818_67358819del	GRCh37
NC_000015.8:g.65145872_65145873del	NCBI36
NG_011990.1:g.5624_5625del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2536_-110+2537del	ENSP00000453082.2:n.-110+2536_-110+2537del
ENST00000560424.2:c.206+120_206+121del	ENSP00000455540.2:n.206+120_206+121del
ENST00000327367.9:c.206+120_206+121del MANE Select	ENSP00000332973.4:n.206+120_206+121del
ENST00000327367.8:c.206+120_206+121del	ENSP00000332973.4:n.206+120_206+121del
ENST00000559460.5:c.-110+2536_-110+2537del	ENSP00000453082.1:n.-110+2536_-110+2537del
NM_005902.3:c.206+120_206+121del	NP_005893.1:n.206+120_206+121del
XM_011521559.1:c.206+120_206+121del	XP_011519861.1:n.206+120_206+121del
XM_011521559.3:c.206+120_206+121del	XP_011519861.1:n.206+120_206+121del
NM_005902.4:c.206+120_206+121del MANE Select	NP_005893.1:n.206+120_206+121del