Canonical Allele Identifier: CA2629100937
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703351-T-TGGC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703356_66703358dup , CM000677.2:g.66703356_66703358dup GRCh38
NC_000015.9:g.66995694_66995696dup , CM000677.1:g.66995694_66995696dup GRCh37
NC_000015.8:g.64782748_64782750dup NCBI36
NG_012244.1:g.6021_6023dup
NG_012244.2:g.6021_6023dup

Transcript Alleles

HGVS Amino-acid change
ENST00000288840.10:c.98_100dup MANE Select ENSP00000288840.5:p.Gly33_Asp34insGly
ENST00000288840.9:c.98_100dup ENSP00000288840.5:p.Gly33_Asp34insGly
ENST00000557916.5:c.98_100dup ENSP00000452955.1:p.Gly33_Asp34insGly
ENST00000612349.1:n.280_282dup
NM_005585.4:c.98_100dup NP_005576.3:p.Gly33_Asp34insGly
NR_027654.1:n.1021_1023dup
XR_931825.1:n.1257_1259dup
XR_931826.1:n.1257_1259dup
XR_931827.1:n.1257_1259dup
XR_931827.2:n.1247_1249dup
NM_005585.5:c.98_100dup MANE Select NP_005576.3:p.Gly33_Asp34insGly
NR_027654.2:n.1121_1123dup
Search 100 bp 5'
Search 100 bp 3'