Canonical Allele Identifier: CA2629114684

Gene: SMAD3

Linked Data

• gnomAD v4: 15-67065924-G-GGGGGGACCCGGGGTCACGCCGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.67065924_67065925insGGGGGACCCGGGGTCACGCCGGC , CM000677.2:g.67065924_67065925insGGGGGACCCGGGGTCACGCCGGC	GRCh38
NC_000015.9:g.67358262_67358263insGGGGGACCCGGGGTCACGCCGGC , CM000677.1:g.67358262_67358263insGGGGGACCCGGGGTCACGCCGGC	GRCh37
NC_000015.8:g.65145316_65145317insGGGGGACCCGGGGTCACGCCGGC	NCBI36
NG_011990.1:g.5068_5069insGGGGGACCCGGGGTCACGCCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559460.6:c.-110+1980_-110+1981insGGGGGACCCGGGGTCACGCCGGC	ENSP00000453082.2:n.-110+1980_-110+1981insGGGGGACCCGGGGTCACGC...
ENST00000560424.2:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC	ENSP00000455540.2:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC
ENST00000327367.9:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC MANE Select	ENSP00000332973.4:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC
ENST00000327367.8:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC	ENSP00000332973.4:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC
ENST00000559460.5:c.-110+1980_-110+1981insGGGGGACCCGGGGTCACGCCGGC	ENSP00000453082.1:n.-110+1980_-110+1981insGGGGGACCCGGGGTCACGC...
NM_005902.3:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC	NP_005893.1:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC
XM_011521559.1:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC	XP_011519861.1:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC
NM_005902.4:c.-231_-230insGGGGGACCCGGGGTCACGCCGGC MANE Select	NP_005893.1:n.-231_-230insGGGGGACCCGGGGTCACGCCGGC