Canonical Allele Identifier: CA1932887767

Gene: AS3MT BORCS7-ASMT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102901589_102901590delinsGC , CM000672.2:g.102901589_102901590delinsGC	GRCh38
NC_000010.10:g.104661346_104661347delinsGC , CM000672.1:g.104661346_104661347delinsGC	GRCh37
NC_000010.9:g.104651336_104651337delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369880.8:c.*889_*890delinsGC (AS3MT) MANE Select	ENSP00000358896.3:n.*889_*890delinsGC
ENST00000299353.6:c.*2024_*2025delinsGC (BORCS7-ASMT)	ENSP00000299353.5:n.*2024_*2025delinsGC
ENST00000369880.7:c.*889_*890delinsGC (AS3MT)	ENSP00000358896.3:n.*889_*890delinsGC
ENST00000615257.1:c.*324_*325delinsGC (AS3MT)	ENSP00000479361.1:n.*324_*325delinsGC
NM_020682.3:c.*889_*890delinsGC (AS3MT)	NP_065733.2:n.*889_*890delinsGC
NR_037644.1:n.2422_2423delinsGC (BORCS7-ASMT)
XM_017017027.1:c.447-1080_447-1079delinsGC	XP_016872516.1:n.447-1080_447-1079delinsGC
XR_001747577.1:n.169-1080_169-1079delinsGC
XR_001747578.1:n.345-1080_345-1079delinsGC
NM_020682.4:c.*889_*890delinsGC (AS3MT) MANE Select	NP_065733.2:n.*889_*890delinsGC
NR_160733.1:n.169-1080_169-1079delinsGC