Canonical Allele Identifier: CA2722545904

Gene: AS3MT BORCS7-ASMT

Linked Data

• dbSNP Id: rs2134138249

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901651_102901661del , CM000672.2:g.102901651_102901661del	GRCh38
NC_000010.10:g.104661408_104661418del , CM000672.1:g.104661408_104661418del	GRCh37
NC_000010.9:g.104651398_104651408del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*951_*961del (AS3MT) MANE Select	ENSP00000358896.3:n.*951_*961del
ENST00000299353.6:c.*2086_*2096del (BORCS7-ASMT)	ENSP00000299353.5:n.*2086_*2096del
ENST00000369880.7:c.*951_*961del (AS3MT)	ENSP00000358896.3:n.*951_*961del
ENST00000615257.1:c.*386_*396del (AS3MT)	ENSP00000479361.1:n.*386_*396del
NM_020682.3:c.*951_*961del (AS3MT)	NP_065733.2:n.*951_*961del
NR_037644.1:n.2484_2494del (BORCS7-ASMT)
XM_017017027.1:c.447-1148_447-1138del	XP_016872516.1:n.447-1148_447-1138del
XR_001747577.1:n.169-1148_169-1138del
XR_001747578.1:n.345-1148_345-1138del
NM_020682.4:c.*951_*961del (AS3MT) MANE Select	NP_065733.2:n.*951_*961del
NR_160733.1:n.169-1148_169-1138del