Canonical Allele Identifier: CA2675403329

Gene: SMAD5

Linked Data

• dbSNP Id: rs2149785476
• gnomAD v4: 5-136181486-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181489del , CM000667.2:g.136181489del	GRCh38
NC_000005.9:g.135517177del , CM000667.1:g.135517177del	GRCh37
NC_000005.8:g.135545076del	NCBI36
NG_032037.1:g.53643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000545279.6:c.*4009del MANE Select	ENSP00000441954.2:n.*4009del
ENST00000513418.1:c.165-5672del
ENST00000545279.5:c.*4009del	ENSP00000441954.2:n.*4009del
ENST00000545620.5:c.*4009del	ENSP00000446474.2:n.*4009del
NM_001001419.2:c.*4009del	NP_001001419.1:n.*4009del
NM_001001420.2:c.*4009del	NP_001001420.1:n.*4009del
NM_005903.6:c.*4009del	NP_005894.3:n.*4009del
XM_017009470.2:c.*4009del	XP_016864959.1:n.*4009del
XM_024446046.1:c.*4009del	XP_024301814.1:n.*4009del
XM_024446047.1:c.*4009del	XP_024301815.1:n.*4009del
NM_005903.7:c.*4009del MANE Select	NP_005894.3:n.*4009del
NM_001001419.3:c.*4009del	NP_001001419.1:n.*4009del
NM_001001420.3:c.*4009del	NP_001001420.1:n.*4009del