Canonical Allele Identifier: CA2640319911

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214634-GGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214635_80214636del , CM000679.2:g.80214635_80214636del	GRCh38
NC_000017.10:g.78188434_78188435del , CM000679.1:g.78188434_78188435del	GRCh37
NC_000017.9:g.75803029_75803030del	NCBI36
NG_008229.1:g.10765_10766del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1231_2845-1230del (CARD14)
ENST00000326317.11:c.485_486del (SGSH) MANE Select	ENSP00000314606.6:p.Phe162SerfsTer6
ENST00000326317.10:c.485_486del (SGSH)	ENSP00000314606.6:p.Phe162SerfsTer6
ENST00000570427.1:c.503_504del (SGSH)	ENSP00000459765.1:p.Phe168SerfsTer6
ENST00000570923.1:c.520_521del (SGSH)	ENSP00000458200.1:p.Ser174LeufsTer?
ENST00000571051.5:n.376-308_376-307del (SGSH)
ENST00000571675.5:n.505_506del (SGSH)
ENST00000572208.5:n.374-308_374-307del (SGSH)
ENST00000572257.5:c.87_88del (SGSH)
ENST00000573150.5:c.379_380del (SGSH)	ENSP00000459280.1:p.Ser127LeufsTer?
ENST00000574505.5:c.344_345del (SGSH)
ENST00000575282.5:n.494_495del (SGSH)
ENST00000576707.5:c.224_225del (SGSH)	ENSP00000461128.1:p.Phe75SerfsTer6
ENST00000576941.5:c.250-308_250-307del (SGSH)	ENSP00000461160.1:n.250-308_250-307del
NM_000199.3:c.485_486del (SGSH)	NP_000190.1:p.Phe162SerfsTer6
XM_005257582.2:c.485_486del (SGSH)	XP_005257639.1:p.Phe162SerfsTer6
XM_005257583.3:c.485_486del (SGSH)	XP_005257640.1:p.Phe162SerfsTer6
XM_011525126.1:c.485_486del (SGSH)	XP_011523428.1:p.Phe162SerfsTer6
XM_011525127.1:c.485_486del (SGSH)	XP_011523429.1:p.Phe162SerfsTer6
XR_934532.1:n.505_506del (SGSH)
NM_000199.4:c.485_486del (SGSH)	NP_000190.1:p.Phe162SerfsTer6
NM_001352921.1:c.485_486del (SGSH)	NP_001339850.1:p.Phe162SerfsTer6
NM_001352922.1:c.485_486del (SGSH)	NP_001339851.1:p.Phe162SerfsTer6
NR_148201.1:n.466_467del (SGSH)
XM_005257583.4:c.485_486del (SGSH)	XP_005257640.1:p.Phe162SerfsTer6
XM_017024952.1:c.485_486del (SGSH)	XP_016880441.1:p.Phe162SerfsTer6
XR_001752585.1:n.505_506del (SGSH)
XR_001752586.1:n.505_506del (SGSH)
XR_001752587.1:n.505_506del (SGSH)
XR_001752588.1:n.505_506del (SGSH)
XR_001752589.1:n.505_506del (SGSH)
XR_001752590.1:n.505_506del (SGSH)
XR_001752591.1:n.505_506del (SGSH)
XR_001752592.1:n.505_506del (SGSH)
XR_002958057.1:n.505_506del (SGSH)
XR_934532.2:n.505_506del (SGSH)
NM_000199.5:c.485_486del (SGSH) MANE Select	NP_000190.1:p.Phe162SerfsTer6
NM_001352921.2:c.485_486del (SGSH)	NP_001339850.1:p.Phe162SerfsTer6
NM_001352922.2:c.485_486del (SGSH)	NP_001339851.1:p.Phe162SerfsTer6
NR_148201.2:n.399_400del (SGSH)
NM_001352921.3:c.485_486del (SGSH)	NP_001339850.1:p.Phe162SerfsTer6