Canonical Allele Identifier: CA10644256

Gene: STX16 STX16-NPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.58679466_58679467del , CM000682.2:g.58679466_58679467del	GRCh38
NC_000020.10:g.57254522_57254523del , CM000682.1:g.57254522_57254523del	GRCh37
NC_000020.9:g.56687928_56687929del	NCBI36
NG_011831.2:g.33195_33196del

Transcript Alleles

HGVS	Amino-acid Change
NM_001001433.3:c.*3175_*3176del (STX16) MANE Select	NP_001001433.1:n.*3175_*3176del
ENST00000371141.8:c.*3175_*3176del (STX16) MANE Select	ENSP00000360183.4:n.*3175_*3176del
NM_001001433.2:c.*3175_*3176del (STX16)	NP_001001433.1:n.*3175_*3176del
NM_001134772.2:c.*3175_*3176del (STX16)	NP_001128244.1:n.*3175_*3176del
NM_001134772.3:c.*3175_*3176del (STX16)	NP_001128244.1:n.*3175_*3176del
NM_001134773.2:c.*3175_*3176del (STX16)	NP_001128245.1:n.*3175_*3176del
NM_001134773.3:c.*3175_*3176del (STX16)	NP_001128245.1:n.*3175_*3176del
NM_001204868.1:c.*3175_*3176del (STX16)	NP_001191797.1:n.*3175_*3176del
NM_001204868.2:c.*3175_*3176del (STX16)	NP_001191797.1:n.*3175_*3176del
NM_003763.5:c.*3175_*3176del (STX16)	NP_003754.2:n.*3175_*3176del
NM_003763.6:c.*3175_*3176del (STX16)	NP_003754.2:n.*3175_*3176del
NR_037941.1:n.4693_4694del (STX16)
NR_037941.2:n.4663_4664del (STX16)
NR_037942.1:n.4086_4087del (STX16)
NR_037942.2:n.4056_4057del (STX16)
NR_037943.1:n.4043_4044del (STX16)
NR_037943.2:n.4013_4014del (STX16)
NR_037945.1:n.1627+5755_1627+5756del (STX16-NPEPL1)
ENST00000355957.9:c.*3175_*3176del (STX16)	ENSP00000348229.5:n.*3175_*3176del
ENST00000358029.8:c.*3175_*3176del (STX16)	ENSP00000350723.4:n.*3175_*3176del
ENST00000359617.8:c.*3175_*3176del (STX16)	ENSP00000352634.4:n.*3175_*3176del
ENST00000361830.7:c.*3175_*3176del (STX16)	ENSP00000354445.4:n.*3175_*3176del
ENST00000371132.8:c.*3175_*3176del (STX16)	ENSP00000360173.4:n.*3175_*3176del
ENST00000413559.1:n.74+5755_74+5756del (STX16-NPEPL1)
ENST00000530122.1:c.873+5755_873+5756del (STX16-NPEPL1)	ENSP00000457522.1:n.873+5755_873+5756del