Canonical Allele Identifier: CA1584852253

Gene: SMAD5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.136180488_136180490delinsGAT , CM000667.2:g.136180488_136180490delinsGAT	GRCh38
NC_000005.9:g.135516176_135516178delinsGAT , CM000667.1:g.135516176_135516178delinsGAT	GRCh37
NC_000005.8:g.135544075_135544077delinsGAT	NCBI36
NG_032037.1:g.52642_52644delinsGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545279.6:c.*3008_*3010delinsGAT MANE Select	ENSP00000441954.2:n.*3008_*3010delinsGAT
ENST00000513418.1:c.164+5856_164+5858delinsGAT
ENST00000545279.5:c.*3008_*3010delinsGAT	ENSP00000441954.2:n.*3008_*3010delinsGAT
ENST00000545620.5:c.*3008_*3010delinsGAT	ENSP00000446474.2:n.*3008_*3010delinsGAT
NM_001001419.2:c.*3008_*3010delinsGAT	NP_001001419.1:n.*3008_*3010delinsGAT
NM_001001420.2:c.*3008_*3010delinsGAT	NP_001001420.1:n.*3008_*3010delinsGAT
NM_005903.6:c.*3008_*3010delinsGAT	NP_005894.3:n.*3008_*3010delinsGAT
XM_017009470.2:c.*3008_*3010delinsGAT	XP_016864959.1:n.*3008_*3010delinsGAT
XM_024446046.1:c.*3008_*3010delinsGAT	XP_024301814.1:n.*3008_*3010delinsGAT
XM_024446047.1:c.*3008_*3010delinsGAT	XP_024301815.1:n.*3008_*3010delinsGAT
NM_005903.7:c.*3008_*3010delinsGAT MANE Select	NP_005894.3:n.*3008_*3010delinsGAT
NM_001001419.3:c.*3008_*3010delinsGAT	NP_001001419.1:n.*3008_*3010delinsGAT
NM_001001420.3:c.*3008_*3010delinsGAT	NP_001001420.1:n.*3008_*3010delinsGAT