Canonical Allele Identifier: CA128079705

Gene: SMAD5

Linked Data

• dbSNP Id: rs529480387
• MyVariant Identifiers: chr5:g.135517207_135517208insT (hg19) ; chr5:g.136181519_136181520insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136181524dup , CM000667.2:g.136181524dup	GRCh38
NC_000005.9:g.135517212dup , CM000667.1:g.135517212dup	GRCh37
NC_000005.8:g.135545111dup	NCBI36
NG_032037.1:g.53678dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*4044dup MANE Select	ENSP00000441954.2:n.*4044dup
ENST00000513418.1:c.165-5637dup
ENST00000545279.5:c.*4044dup	ENSP00000441954.2:n.*4044dup
ENST00000545620.5:c.*4044dup	ENSP00000446474.2:n.*4044dup
NM_001001419.2:c.*4044dup	NP_001001419.1:n.*4044dup
NM_001001420.2:c.*4044dup	NP_001001420.1:n.*4044dup
NM_005903.6:c.*4044dup	NP_005894.3:n.*4044dup
XM_017009470.2:c.*4044dup	XP_016864959.1:n.*4044dup
XM_024446046.1:c.*4044dup	XP_024301814.1:n.*4044dup
XM_024446047.1:c.*4044dup	XP_024301815.1:n.*4044dup
NM_005903.7:c.*4044dup MANE Select	NP_005894.3:n.*4044dup
NM_001001419.3:c.*4044dup	NP_001001419.1:n.*4044dup
NM_001001420.3:c.*4044dup	NP_001001420.1:n.*4044dup