Canonical Allele Identifier: CA2629100915
Gene: SMAD6 HGNC NCBI

Linked Data

gnomAD v4: 15-66703269-C-CGTTT
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.66703269_66703270insGTTT , CM000677.2:g.66703269_66703270insGTTT GRCh38
NC_000015.9:g.66995607_66995608insGTTT , CM000677.1:g.66995607_66995608insGTTT GRCh37
NC_000015.8:g.64782661_64782662insGTTT NCBI36
NG_012244.1:g.5934_5935insGTTT
NG_012244.2:g.5934_5935insGTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000288840.10:c.11_12insGTTT MANE Select ENSP00000288840.5:p.Lys5PhefsTer?
ENST00000288840.9:c.11_12insGTTT ENSP00000288840.5:p.Lys5PhefsTer?
ENST00000557916.5:c.11_12insGTTT ENSP00000452955.1:p.Lys5PhefsTer?
ENST00000612349.1:n.193_194insGTTT
NM_005585.4:c.11_12insGTTT NP_005576.3:p.Lys5PhefsTer?
NR_027654.1:n.934_935insGTTT
XR_931825.1:n.1170_1171insGTTT
XR_931826.1:n.1170_1171insGTTT
XR_931827.1:n.1170_1171insGTTT
XR_931827.2:n.1160_1161insGTTT
NM_005585.5:c.11_12insGTTT MANE Select NP_005576.3:p.Lys5PhefsTer?
NR_027654.2:n.1034_1035insGTTT
Search 100 bp 5'
Search 100 bp 3'