Canonical Allele Identifier: CA2277864368

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214712_80214714delinsCAA , CM000679.2:g.80214712_80214714delinsCAA	GRCh38
NC_000017.10:g.78188511_78188513delinsCAA , CM000679.1:g.78188511_78188513delinsCAA	GRCh37
NC_000017.9:g.75803106_75803108delinsCAA	NCBI36
NG_008229.1:g.10687_10689delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1154_2845-1152delinsCAA (CARD14)
ENST00000326317.11:c.407_409delinsTTG (SGSH) MANE Select	ENSP00000314606.6:p.Phe136=
ENST00000326317.10:c.407_409delinsTTG (SGSH)	ENSP00000314606.6:p.Phe136=
ENST00000570427.1:c.425_427delinsTTG (SGSH)	ENSP00000459765.1:p.Phe142=
ENST00000570923.1:c.442_444delinsTTG (SGSH)	ENSP00000458200.1:p.Leu148=
ENST00000571051.5:n.375+319_375+321delinsTTG (SGSH)
ENST00000571675.5:n.427_429delinsTTG (SGSH)
ENST00000572208.5:n.373+319_373+321delinsTTG (SGSH)
ENST00000572257.5:c.9_11delinsTTG (SGSH)
ENST00000573150.5:c.301_303delinsTTG (SGSH)	ENSP00000459280.1:p.Leu101=
ENST00000574505.5:c.301-35_301-33delinsTTG (SGSH)
ENST00000575282.5:n.416_418delinsTTG (SGSH)
ENST00000576707.5:c.146_148delinsTTG (SGSH)	ENSP00000461128.1:p.Phe49=
ENST00000576941.5:c.250-386_250-384delinsTTG (SGSH)	ENSP00000461160.1:n.250-386_250-384delinsTTG
NM_000199.3:c.407_409delinsTTG (SGSH)	NP_000190.1:p.Phe136=
XM_005257582.2:c.407_409delinsTTG (SGSH)	XP_005257639.1:p.Phe136=
XM_005257583.3:c.407_409delinsTTG (SGSH)	XP_005257640.1:p.Phe136=
XM_011525126.1:c.407_409delinsTTG (SGSH)	XP_011523428.1:p.Phe136=
XM_011525127.1:c.407_409delinsTTG (SGSH)	XP_011523429.1:p.Phe136=
XR_934532.1:n.427_429delinsTTG (SGSH)
NM_000199.4:c.407_409delinsTTG (SGSH)	NP_000190.1:p.Phe136=
NM_001352921.1:c.407_409delinsTTG (SGSH)	NP_001339850.1:p.Phe136=
NM_001352922.1:c.407_409delinsTTG (SGSH)	NP_001339851.1:p.Phe136=
NR_148201.1:n.388_390delinsTTG (SGSH)
XM_005257583.4:c.407_409delinsTTG (SGSH)	XP_005257640.1:p.Phe136=
XM_017024952.1:c.407_409delinsTTG (SGSH)	XP_016880441.1:p.Phe136=
XR_001752585.1:n.427_429delinsTTG (SGSH)
XR_001752586.1:n.427_429delinsTTG (SGSH)
XR_001752587.1:n.427_429delinsTTG (SGSH)
XR_001752588.1:n.427_429delinsTTG (SGSH)
XR_001752589.1:n.427_429delinsTTG (SGSH)
XR_001752590.1:n.427_429delinsTTG (SGSH)
XR_001752591.1:n.427_429delinsTTG (SGSH)
XR_001752592.1:n.427_429delinsTTG (SGSH)
XR_002958057.1:n.427_429delinsTTG (SGSH)
XR_934532.2:n.427_429delinsTTG (SGSH)
NM_000199.5:c.407_409delinsTTG (SGSH) MANE Select	NP_000190.1:p.Phe136=
NM_001352921.2:c.407_409delinsTTG (SGSH)	NP_001339850.1:p.Phe136=
NM_001352922.2:c.407_409delinsTTG (SGSH)	NP_001339851.1:p.Phe136=
NR_148201.2:n.321_323delinsTTG (SGSH)
NM_001352921.3:c.407_409delinsTTG (SGSH)	NP_001339850.1:p.Phe136=