Canonical Allele Identifier: CA2629115069

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066475-CTGTGTGGGTGCGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066482_67066495del , CM000677.2:g.67066482_67066495del	GRCh38
NC_000015.9:g.67358820_67358833del , CM000677.1:g.67358820_67358833del	GRCh37
NC_000015.8:g.65145874_65145887del	NCBI36
NG_011990.1:g.5626_5639del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2538_-110+2551del	ENSP00000453082.2:n.-110+2538_-110+2551del
ENST00000560424.2:c.206+122_206+135del	ENSP00000455540.2:n.206+122_206+135del
ENST00000327367.9:c.206+122_206+135del MANE Select	ENSP00000332973.4:n.206+122_206+135del
ENST00000327367.8:c.206+122_206+135del	ENSP00000332973.4:n.206+122_206+135del
ENST00000559460.5:c.-110+2538_-110+2551del	ENSP00000453082.1:n.-110+2538_-110+2551del
NM_005902.3:c.206+122_206+135del	NP_005893.1:n.206+122_206+135del
XM_011521559.1:c.206+122_206+135del	XP_011519861.1:n.206+122_206+135del
XM_011521559.3:c.206+122_206+135del	XP_011519861.1:n.206+122_206+135del
NM_005902.4:c.206+122_206+135del MANE Select	NP_005893.1:n.206+122_206+135del