Canonical Allele Identifier: CA2629115128

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066511-GGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066514_67066517del , CM000677.2:g.67066514_67066517del	GRCh38
NC_000015.9:g.67358852_67358855del , CM000677.1:g.67358852_67358855del	GRCh37
NC_000015.8:g.65145906_65145909del	NCBI36
NG_011990.1:g.5658_5661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2570_-110+2573del	ENSP00000453082.2:n.-110+2570_-110+2573del
ENST00000560424.2:c.206+154_206+157del	ENSP00000455540.2:n.206+154_206+157del
ENST00000327367.9:c.206+154_206+157del MANE Select	ENSP00000332973.4:n.206+154_206+157del
ENST00000327367.8:c.206+154_206+157del	ENSP00000332973.4:n.206+154_206+157del
ENST00000559460.5:c.-110+2570_-110+2573del	ENSP00000453082.1:n.-110+2570_-110+2573del
NM_005902.3:c.206+154_206+157del	NP_005893.1:n.206+154_206+157del
XM_011521559.1:c.206+154_206+157del	XP_011519861.1:n.206+154_206+157del
XM_011521559.3:c.206+154_206+157del	XP_011519861.1:n.206+154_206+157del
NM_005902.4:c.206+154_206+157del MANE Select	NP_005893.1:n.206+154_206+157del