Canonical Allele Identifier: CA1584844804

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154166_136154167delinsAG , CM000667.2:g.136154166_136154167delinsAG	GRCh38
NC_000005.9:g.135489855_135489856delinsAG , CM000667.1:g.135489855_135489856delinsAG	GRCh37
NC_000005.8:g.135517754_135517755delinsAG	NCBI36
NG_032037.1:g.26320_26321delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+3_403+4delinsAG	ENSP00000426696.2:n.403+3_403+4delinsAG
ENST00000545279.6:c.403+3_403+4delinsAG MANE Select	ENSP00000441954.2:n.403+3_403+4delinsAG
ENST00000514777.1:n.60-18268_60-18267delinsAG
ENST00000545279.5:c.403+3_403+4delinsAG	ENSP00000441954.2:n.403+3_403+4delinsAG
ENST00000545620.5:c.403+3_403+4delinsAG	ENSP00000446474.2:n.403+3_403+4delinsAG
NM_001001419.2:c.403+3_403+4delinsAG	NP_001001419.1:n.403+3_403+4delinsAG
NM_001001420.2:c.403+3_403+4delinsAG	NP_001001420.1:n.403+3_403+4delinsAG
NM_005903.6:c.403+3_403+4delinsAG	NP_005894.3:n.403+3_403+4delinsAG
XR_948810.1:n.1973+1260_1973+1261delinsCT
XM_017009470.2:c.403+3_403+4delinsAG	XP_016864959.1:n.403+3_403+4delinsAG
XM_024446046.1:c.403+3_403+4delinsAG	XP_024301814.1:n.403+3_403+4delinsAG
XM_024446047.1:c.403+3_403+4delinsAG	XP_024301815.1:n.403+3_403+4delinsAG
NM_005903.7:c.403+3_403+4delinsAG MANE Select	NP_005894.3:n.403+3_403+4delinsAG
NM_001001419.3:c.403+3_403+4delinsAG	NP_001001419.1:n.403+3_403+4delinsAG
NM_001001420.3:c.403+3_403+4delinsAG	NP_001001420.1:n.403+3_403+4delinsAG