Canonical Allele Identifier: CA2838238255

Gene: SPEGNB SPEG ASIC4-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219498205_219498206del , CM000664.2:g.219498205_219498206del	GRCh38
NC_000002.11:g.220362927_220362928del , CM000664.1:g.220362927_220362928del	GRCh37
NC_000002.10:g.220071171_220071172del	NCBI36
NG_033833.1:g.4341_4342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651166.2:c.*16_*17del (SPEGNB) MANE Select	ENSP00000498687.1:n.*16_*17del
ENST00000651166.1:c.*16_*17del (SPEGNB)	ENSP00000498687.1:n.*16_*17del
ENST00000412982.5:c.1046_1047del (SPEG)
ENST00000475104.1:n.326_327del (SPEG)
ENST00000617028.1:c.733_734del (SPEG)	ENSP00000479190.1:n.733_734del
NM_001286811.1:c.733_734del (SPEGNB)	NP_001273740.1:n.733_734del
XM_011510469.1:c.*16_*17del (SPEGNB)	XP_011508771.1:n.*16_*17del
XR_923921.1:n.353-15797_353-15796del (ASIC4-AS1)
XR_923921.2:n.392-15797_392-15796del (ASIC4-AS1)
NM_001286811.2:c.*16_*17del (SPEGNB) MANE Select	NP_001273740.1:n.*16_*17del