Canonical Allele Identifier: CA2629114968

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67066223-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67066225del , CM000677.2:g.67066225del	GRCh38
NC_000015.9:g.67358563del , CM000677.1:g.67358563del	GRCh37
NC_000015.8:g.65145617del	NCBI36
NG_011990.1:g.5369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+2281del	ENSP00000453082.2:n.-110+2281del
ENST00000560424.2:c.71del	ENSP00000455540.2:p.Asn24ThrfsTer?
ENST00000327367.9:c.71del MANE Select	ENSP00000332973.4:p.Asn24ThrfsTer?
ENST00000327367.8:c.71del	ENSP00000332973.4:p.Asn24ThrfsTer?
ENST00000559460.5:c.-110+2281del	ENSP00000453082.1:n.-110+2281del
NM_005902.3:c.71del	NP_005893.1:p.Asn24ThrfsTer?
XM_011521559.1:c.71del	XP_011519861.1:p.Asn24ThrfsTer?
XM_011521559.3:c.71del	XP_011519861.1:p.Asn24ThrfsTer?
NM_005902.4:c.71del MANE Select	NP_005893.1:p.Asn24ThrfsTer?