Canonical Allele Identifier: CA2768532045

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136154207_136154208insCACACCCAACAC , CM000667.2:g.136154207_136154208insCACACCCAACAC	GRCh38
NC_000005.9:g.135489896_135489897insCACACCCAACAC , CM000667.1:g.135489896_135489897insCACACCCAACAC	GRCh37
NC_000005.8:g.135517795_135517796insCACACCCAACAC	NCBI36
NG_032037.1:g.26361_26362insCACACCCAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000509297.6:c.403+44_403+45insCACACCCAACAC	ENSP00000426696.2:n.403+44_403+45insCACACCCAACAC
ENST00000545279.6:c.403+44_403+45insCACACCCAACAC MANE Select	ENSP00000441954.2:n.403+44_403+45insCACACCCAACAC
ENST00000514777.1:n.60-18227_60-18226insCACACCCAACAC
ENST00000545279.5:c.403+44_403+45insCACACCCAACAC	ENSP00000441954.2:n.403+44_403+45insCACACCCAACAC
ENST00000545620.5:c.403+44_403+45insCACACCCAACAC	ENSP00000446474.2:n.403+44_403+45insCACACCCAACAC
NM_001001419.2:c.403+44_403+45insCACACCCAACAC	NP_001001419.1:n.403+44_403+45insCACACCCAACAC
NM_001001420.2:c.403+44_403+45insCACACCCAACAC	NP_001001420.1:n.403+44_403+45insCACACCCAACAC
NM_005903.6:c.403+44_403+45insCACACCCAACAC	NP_005894.3:n.403+44_403+45insCACACCCAACAC
XR_948810.1:n.1973+1219_1973+1220insGTGTTGGGTGTG
XM_017009470.2:c.403+44_403+45insCACACCCAACAC	XP_016864959.1:n.403+44_403+45insCACACCCAACAC
XM_024446046.1:c.403+44_403+45insCACACCCAACAC	XP_024301814.1:n.403+44_403+45insCACACCCAACAC
XM_024446047.1:c.403+44_403+45insCACACCCAACAC	XP_024301815.1:n.403+44_403+45insCACACCCAACAC
NM_005903.7:c.403+44_403+45insCACACCCAACAC MANE Select	NP_005894.3:n.403+44_403+45insCACACCCAACAC
NM_001001419.3:c.403+44_403+45insCACACCCAACAC	NP_001001419.1:n.403+44_403+45insCACACCCAACAC
NM_001001420.3:c.403+44_403+45insCACACCCAACAC	NP_001001420.1:n.403+44_403+45insCACACCCAACAC