Canonical Allele Identifier: CA804328240
Gene: SMAD5 HGNC NCBI
SMAD5-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1485740271
gnomAD v3: 5-136134580-CAA-C
gnomAD v4: 5-136134580-CAA-C
MyVariant Identifiers: chr5:g.135470270_135470271del (hg19) chr5:g.136134581_136134582del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.136134582_136134583del , CM000667.2:g.136134582_136134583del GRCh38
NC_000005.9:g.135470271_135470272del , CM000667.1:g.135470271_135470272del GRCh37
NC_000005.8:g.135498170_135498171del NCBI36
NG_032037.1:g.6736_6737del

Transcript Alleles

HGVS Amino-acid Change
ENST00000509297.6:c.-245+623_-245+624del (SMAD5) ENSP00000426696.2:n.-245+623_-245+624del
ENST00000545279.6:c.-245+1620_-245+1621del (SMAD5) MANE Select ENSP00000441954.2:n.-245+1620_-245+1621del
ENST00000506223.1:c.-170+623_-170+624del (SMAD5) ENSP00000422954.1:n.-170+623_-170+624del
ENST00000507118.5:c.-170+1620_-170+1621del (SMAD5) ENSP00000425749.1:n.-170+1620_-170+1621del
ENST00000509297.5:c.-245+623_-245+624del (SMAD5) ENSP00000426696.1:n.-245+623_-245+624del
ENST00000509962.5:n.250+1109_250+1110del (SMAD5)
ENST00000511116.5:c.-329+1620_-329+1621del (SMAD5) ENSP00000424279.1:n.-329+1620_-329+1621del
ENST00000514777.1:n.59+1620_59+1621del (SMAD5)
ENST00000515005.1:c.-245+1109_-245+1110del (SMAD5) ENSP00000427330.1:n.-245+1109_-245+1110del
ENST00000545279.5:c.-245+1620_-245+1621del (SMAD5) ENSP00000441954.2:n.-245+1620_-245+1621del
ENST00000545620.5:c.-170+1620_-170+1621del (SMAD5) ENSP00000446474.2:n.-170+1620_-170+1621del
NM_001001419.2:c.-329+1620_-329+1621del (SMAD5) NP_001001419.1:n.-329+1620_-329+1621del
NM_001001420.2:c.-170+1620_-170+1621del (SMAD5) NP_001001420.1:n.-170+1620_-170+1621del
NM_005903.6:c.-245+1620_-245+1621del (SMAD5) NP_005894.3:n.-245+1620_-245+1621del
NR_026763.1:n.309_310del (SMAD5-AS1)
XM_017009470.2:c.-329+1109_-329+1110del (SMAD5) XP_016864959.1:n.-329+1109_-329+1110del
XM_024446046.1:c.-245+1109_-245+1110del (SMAD5) XP_024301814.1:n.-245+1109_-245+1110del
XM_024446047.1:c.-245+623_-245+624del (SMAD5) XP_024301815.1:n.-245+623_-245+624del
NM_005903.7:c.-245+1620_-245+1621del (SMAD5) MANE Select NP_005894.3:n.-245+1620_-245+1621del
NM_001001419.3:c.-329+1620_-329+1621del (SMAD5) NP_001001419.1:n.-329+1620_-329+1621del
NM_001001420.3:c.-170+1620_-170+1621del (SMAD5) NP_001001420.1:n.-170+1620_-170+1621del
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