Canonical Allele Identifier: CA804328262

Gene: SMAD5 SMAD5-AS1

Linked Data

• dbSNP Id: rs1486643541
• gnomAD v3: 5-136134674-AAACTT-A
• gnomAD v4: 5-136134674-AAACTT-A
• MyVariant Identifiers: chr5:g.135470364_135470368del (hg19) ; chr5:g.136134675_136134679del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136134678_136134682del , CM000667.2:g.136134678_136134682del	GRCh38
NC_000005.9:g.135470367_135470371del , CM000667.1:g.135470367_135470371del	GRCh37
NC_000005.8:g.135498266_135498270del	NCBI36
NG_032037.1:g.6832_6836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.-245+719_-245+723del (SMAD5)	ENSP00000426696.2:n.-245+719_-245+723del
ENST00000545279.6:c.-245+1716_-245+1720del (SMAD5) MANE Select	ENSP00000441954.2:n.-245+1716_-245+1720del
ENST00000506223.1:c.-170+719_-170+723del (SMAD5)	ENSP00000422954.1:n.-170+719_-170+723del
ENST00000507118.5:c.-170+1716_-170+1720del (SMAD5)	ENSP00000425749.1:n.-170+1716_-170+1720del
ENST00000509297.5:c.-245+719_-245+723del (SMAD5)	ENSP00000426696.1:n.-245+719_-245+723del
ENST00000509962.5:n.250+1205_250+1209del (SMAD5)
ENST00000511116.5:c.-329+1716_-329+1720del (SMAD5)	ENSP00000424279.1:n.-329+1716_-329+1720del
ENST00000514777.1:n.59+1716_59+1720del (SMAD5)
ENST00000515005.1:c.-245+1205_-245+1209del (SMAD5)	ENSP00000427330.1:n.-245+1205_-245+1209del
ENST00000545279.5:c.-245+1716_-245+1720del (SMAD5)	ENSP00000441954.2:n.-245+1716_-245+1720del
ENST00000545620.5:c.-170+1716_-170+1720del (SMAD5)	ENSP00000446474.2:n.-170+1716_-170+1720del
NM_001001419.2:c.-329+1716_-329+1720del (SMAD5)	NP_001001419.1:n.-329+1716_-329+1720del
NM_001001420.2:c.-170+1716_-170+1720del (SMAD5)	NP_001001420.1:n.-170+1716_-170+1720del
NM_005903.6:c.-245+1716_-245+1720del (SMAD5)	NP_005894.3:n.-245+1716_-245+1720del
NR_026763.1:n.212_216del (SMAD5-AS1)
XM_017009470.2:c.-329+1205_-329+1209del (SMAD5)	XP_016864959.1:n.-329+1205_-329+1209del
XM_024446046.1:c.-245+1205_-245+1209del (SMAD5)	XP_024301814.1:n.-245+1205_-245+1209del
XM_024446047.1:c.-245+719_-245+723del (SMAD5)	XP_024301815.1:n.-245+719_-245+723del
NM_005903.7:c.-245+1716_-245+1720del (SMAD5) MANE Select	NP_005894.3:n.-245+1716_-245+1720del
NM_001001419.3:c.-329+1716_-329+1720del (SMAD5)	NP_001001419.1:n.-329+1716_-329+1720del
NM_001001420.3:c.-170+1716_-170+1720del (SMAD5)	NP_001001420.1:n.-170+1716_-170+1720del