Canonical Allele Identifier: CA1932887184
Gene: AS3MT HGNC NCBI
BORCS7-ASMT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.102900212_102900216delinsTATAA , CM000672.2:g.102900212_102900216delinsTATAA GRCh38
NC_000010.10:g.104659969_104659973delinsTATAA , CM000672.1:g.104659969_104659973delinsTATAA GRCh37
NC_000010.9:g.104649959_104649963delinsTATAA NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000369880.8:c.1021-381_1021-377delinsTATAA (AS3MT) MANE Select ENSP00000358896.3:n.1021-381_1021-377deli...
ENST00000299353.6:c.*1028-381_*1028-377delinsTATAA (BORCS7-ASMT) ENSP00000299353.5:n.*1028-381_*1028-377de...
ENST00000369880.7:c.1021-381_1021-377delinsTATAA (AS3MT) ENSP00000358896.3:n.1021-381_1021-377deli...
ENST00000615257.1:c.*3-381_*3-377delinsTATAA (AS3MT) ENSP00000479361.1:n.*3-381_*3-377delinsTA...
NM_020682.3:c.1021-381_1021-377delinsTATAA (AS3MT) NP_065733.2:n.1021-381_1021-377delinsTATA...
NR_037644.1:n.1426-381_1426-377delinsTATAA (BORCS7-ASMT)
XM_017017027.1:c.*92+178_*92+182delinsTTATA XP_016872516.1:n.*92+178_*92+182delinsTTA...
XR_001747577.1:n.285+178_285+182delinsTTATA
XR_001747578.1:n.461+178_461+182delinsTTATA
NM_020682.4:c.1021-381_1021-377delinsTATAA (AS3MT) MANE Select NP_065733.2:n.1021-381_1021-377delinsTATA...
NR_160733.1:n.285+178_285+182delinsTTATA