Canonical Allele Identifier: CA2184231413

Gene: SMAD6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66774003_66774005delinsGGA , CM000677.2:g.66774003_66774005delinsGGA	GRCh38
NC_000015.9:g.67066341_67066343delinsGGA , CM000677.1:g.67066341_67066343delinsGGA	GRCh37
NC_000015.8:g.64853395_64853397delinsGGA	NCBI36
NG_012244.1:g.76668_76670delinsGGA
NG_012244.2:g.76668_76670delinsGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288840.10:c.953-6994_953-6992delinsGGA MANE Select	ENSP00000288840.5:n.953-6994_953-6992delinsGGA
ENST00000288840.9:c.953-6994_953-6992delinsGGA	ENSP00000288840.5:n.953-6994_953-6992delinsGGA
ENST00000557916.5:c.1085-6994_1085-6992delinsGGA	ENSP00000452955.1:n.1085-6994_1085-6992delinsGGA
ENST00000559931.5:c.257-6994_257-6992delinsGGA	ENSP00000453446.1:n.257-6994_257-6992delinsGGA
NM_005585.4:c.953-6994_953-6992delinsGGA	NP_005576.3:n.953-6994_953-6992delinsGGA
NR_027654.1:n.2008-6994_2008-6992delinsGGA
XM_011521561.1:c.170-6994_170-6992delinsGGA	XP_011519863.1:n.170-6994_170-6992delinsGGA
XR_931825.1:n.2352-6994_2352-6992delinsGGA
XM_011521561.2:c.170-6994_170-6992delinsGGA	XP_011519863.1:n.170-6994_170-6992delinsGGA
NM_005585.5:c.953-6994_953-6992delinsGGA MANE Select	NP_005576.3:n.953-6994_953-6992delinsGGA
NR_027654.2:n.2108-6994_2108-6992delinsGGA