Canonical Allele Identifier: CA3420757

Gene: SMAD5

Linked Data

• dbSNP Id: rs766404143
• ExAC: 5:135489855 AG / A
• gnomAD v2: 5-135489855-AG-A
• gnomAD v3: 5-136154166-AG-A
• gnomAD v4: 5-136154166-AG-A
• MyVariant Identifiers: chr5:g.135489856del (hg19) ; chr5:g.136154167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154168del , CM000667.2:g.136154168del	GRCh38
NC_000005.9:g.135489857del , CM000667.1:g.135489857del	GRCh37
NC_000005.8:g.135517756del	NCBI36
NG_032037.1:g.26322del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+5del	ENSP00000426696.2:n.403+5del
ENST00000545279.6:c.403+5del MANE Select	ENSP00000441954.2:n.403+5del
ENST00000514777.1:n.60-18266del
ENST00000545279.5:c.403+5del	ENSP00000441954.2:n.403+5del
ENST00000545620.5:c.403+5del	ENSP00000446474.2:n.403+5del
NM_001001419.2:c.403+5del	NP_001001419.1:n.403+5del
NM_001001420.2:c.403+5del	NP_001001420.1:n.403+5del
NM_005903.6:c.403+5del	NP_005894.3:n.403+5del
XR_948810.1:n.1973+1260del
XM_017009470.2:c.403+5del	XP_016864959.1:n.403+5del
XM_024446046.1:c.403+5del	XP_024301814.1:n.403+5del
XM_024446047.1:c.403+5del	XP_024301815.1:n.403+5del
NM_005903.7:c.403+5del MANE Select	NP_005894.3:n.403+5del
NM_001001419.3:c.403+5del	NP_001001419.1:n.403+5del
NM_001001420.3:c.403+5del	NP_001001420.1:n.403+5del