Canonical Allele Identifier: CA1584844849
Gene: SMAD5 HGNC NCBI

Linked Data

dbSNP Id: rs1753559645

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136154215_136154216del , CM000667.2:g.136154215_136154216del GRCh38
NC_000005.9:g.135489904_135489905del , CM000667.1:g.135489904_135489905del GRCh37
NC_000005.8:g.135517803_135517804del NCBI36
NG_032037.1:g.26369_26370del

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.403+52_403+53del ENSP00000426696.2:n.403+52_403+53del
ENST00000545279.6:c.403+52_403+53del MANE Select ENSP00000441954.2:n.403+52_403+53del
ENST00000514777.1:n.60-18219_60-18218del
ENST00000545279.5:c.403+52_403+53del ENSP00000441954.2:n.403+52_403+53del
ENST00000545620.5:c.403+52_403+53del ENSP00000446474.2:n.403+52_403+53del
NM_001001419.2:c.403+52_403+53del NP_001001419.1:n.403+52_403+53del
NM_001001420.2:c.403+52_403+53del NP_001001420.1:n.403+52_403+53del
NM_005903.6:c.403+52_403+53del NP_005894.3:n.403+52_403+53del
XR_948810.1:n.1973+1215_1973+1216del
XM_017009470.2:c.403+52_403+53del XP_016864959.1:n.403+52_403+53del
XM_024446046.1:c.403+52_403+53del XP_024301814.1:n.403+52_403+53del
XM_024446047.1:c.403+52_403+53del XP_024301815.1:n.403+52_403+53del
NM_005903.7:c.403+52_403+53del MANE Select NP_005894.3:n.403+52_403+53del
NM_001001419.3:c.403+52_403+53del NP_001001419.1:n.403+52_403+53del
NM_001001420.3:c.403+52_403+53del NP_001001420.1:n.403+52_403+53del