Canonical Allele Identifier: CA2629115082

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066484-TGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066486_67066487del , CM000677.2:g.67066486_67066487del	GRCh38
NC_000015.9:g.67358824_67358825del , CM000677.1:g.67358824_67358825del	GRCh37
NC_000015.8:g.65145878_65145879del	NCBI36
NG_011990.1:g.5630_5631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2542_-110+2543del	ENSP00000453082.2:n.-110+2542_-110+2543del
ENST00000560424.2:c.206+126_206+127del	ENSP00000455540.2:n.206+126_206+127del
ENST00000327367.9:c.206+126_206+127del MANE Select	ENSP00000332973.4:n.206+126_206+127del
ENST00000327367.8:c.206+126_206+127del	ENSP00000332973.4:n.206+126_206+127del
ENST00000559460.5:c.-110+2542_-110+2543del	ENSP00000453082.1:n.-110+2542_-110+2543del
NM_005902.3:c.206+126_206+127del	NP_005893.1:n.206+126_206+127del
XM_011521559.1:c.206+126_206+127del	XP_011519861.1:n.206+126_206+127del
XM_011521559.3:c.206+126_206+127del	XP_011519861.1:n.206+126_206+127del
NM_005902.4:c.206+126_206+127del MANE Select	NP_005893.1:n.206+126_206+127del