Canonical Allele Identifier: CA2580095344
Community Standard Title: NM_000199.5(SGSH):c.148_149insAGTG (p.Leu50GlnfsTer?)
Gene: SGSH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80217132_80217133insCACT , CM000679.2:g.80217132_80217133insCACT GRCh38
NC_000017.10:g.78190931_78190932insCACT , CM000679.1:g.78190931_78190932insCACT GRCh37
NC_000017.9:g.75805526_75805527insCACT NCBI36
NG_008229.1:g.8268_8269insAGTG

Transcript Alleles

HGVS Amino-acid Change
NM_000199.5:c.148_149insAGTG MANE Select NP_000190.1:p.Leu50GlnfsTer?
ENST00000326317.11:c.148_149insAGTG MANE Select ENSP00000314606.6:p.Leu50GlnfsTer?
NM_000199.3:c.148_149insAGTG NP_000190.1:p.Leu50GlnfsTer?
NM_000199.4:c.148_149insAGTG NP_000190.1:p.Leu50GlnfsTer?
NM_001352921.1:c.148_149insAGTG NP_001339850.1:p.Leu50GlnfsTer?
NM_001352921.2:c.148_149insAGTG NP_001339850.1:p.Leu50GlnfsTer?
NM_001352921.3:c.148_149insAGTG NP_001339850.1:p.Leu50GlnfsTer?
NM_001352922.1:c.148_149insAGTG NP_001339851.1:p.Leu50GlnfsTer?
NM_001352922.2:c.148_149insAGTG NP_001339851.1:p.Leu50GlnfsTer?
NR_148201.1:n.235_236insAGTG
NR_148201.2:n.168_169insAGTG
ENST00000326317.10:c.148_149insAGTG ENSP00000314606.6:p.Leu50GlnfsTer?
ENST00000570427.1:c.148_149insAGTG ENSP00000459765.1:p.Leu50GlnfsTer?
ENST00000570923.1:c.183_184insAGTG ENSP00000458200.1:p.Trp62SerfsTer?
ENST00000571051.5:n.168_169insAGTG
ENST00000571075.1:n.168_169insAGTG
ENST00000571675.5:n.168_169insAGTG
ENST00000572208.5:n.166_167insAGTG
ENST00000573150.5:c.148_149insAGTG ENSP00000459280.1:p.Leu50GlnfsTer?
ENST00000574505.5:c.93_94insAGTG
ENST00000575188.5:n.168_169insAGTG
ENST00000575282.5:n.157_158insAGTG
ENST00000576707.5:c.-114_-113insAGTG ENSP00000461128.1:n.-114_-113insAGTG
ENST00000576941.5:c.148_149insAGTG ENSP00000461160.1:p.Leu50GlnfsTer?
XM_005257582.2:c.148_149insAGTG XP_005257639.1:p.Leu50GlnfsTer?
XM_005257583.3:c.148_149insAGTG XP_005257640.1:p.Leu50GlnfsTer?
XM_005257583.4:c.148_149insAGTG XP_005257640.1:p.Leu50GlnfsTer?
XM_011525126.1:c.148_149insAGTG XP_011523428.1:p.Leu50GlnfsTer?
XM_011525127.1:c.148_149insAGTG XP_011523429.1:p.Leu50GlnfsTer?
XM_017024952.1:c.148_149insAGTG XP_016880441.1:p.Leu50GlnfsTer?
XR_001752585.1:n.168_169insAGTG
XR_001752586.1:n.168_169insAGTG
XR_001752587.1:n.168_169insAGTG
XR_001752588.1:n.168_169insAGTG
XR_001752589.1:n.168_169insAGTG
XR_001752590.1:n.168_169insAGTG
XR_001752591.1:n.168_169insAGTG
XR_001752592.1:n.168_169insAGTG
XR_002958057.1:n.168_169insAGTG
XR_934532.1:n.168_169insAGTG
XR_934532.2:n.168_169insAGTG