Canonical Allele Identifier: CA2640320345

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214828-TCTGCCCCTCTCGGCCCTAAGCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214830_80214851del , CM000679.2:g.80214830_80214851del	GRCh38
NC_000017.10:g.78188629_78188650del , CM000679.1:g.78188629_78188650del	GRCh37
NC_000017.9:g.75803224_75803245del	NCBI36
NG_008229.1:g.10551_10572del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1036_2845-1015del (CARD14)
ENST00000326317.11:c.356-85_356-64del (SGSH) MANE Select	ENSP00000314606.6:n.356-85_356-64del
ENST00000326317.10:c.356-85_356-64del (SGSH)	ENSP00000314606.6:n.356-85_356-64del
ENST00000570427.1:c.356-67_356-46del (SGSH)	ENSP00000459765.1:n.356-67_356-46del
ENST00000570923.1:c.391-85_391-64del (SGSH)	ENSP00000458200.1:n.391-85_391-64del
ENST00000571051.5:n.375+183_375+204del (SGSH)
ENST00000571675.5:n.376-85_376-64del (SGSH)
ENST00000572208.5:n.373+183_373+204del (SGSH)
ENST00000573150.5:c.250-85_250-64del (SGSH)	ENSP00000459280.1:n.250-85_250-64del
ENST00000574505.5:c.301-171_301-150del (SGSH)
ENST00000575282.5:n.365-85_365-64del (SGSH)
ENST00000576707.5:c.95-85_95-64del (SGSH)	ENSP00000461128.1:n.95-85_95-64del
ENST00000576941.5:c.250-522_250-501del (SGSH)	ENSP00000461160.1:n.250-522_250-501del
NM_000199.3:c.356-85_356-64del (SGSH)	NP_000190.1:n.356-85_356-64del
XM_005257582.2:c.356-85_356-64del (SGSH)	XP_005257639.1:n.356-85_356-64del
XM_005257583.3:c.356-85_356-64del (SGSH)	XP_005257640.1:n.356-85_356-64del
XM_011525126.1:c.356-85_356-64del (SGSH)	XP_011523428.1:n.356-85_356-64del
XM_011525127.1:c.356-85_356-64del (SGSH)	XP_011523429.1:n.356-85_356-64del
XR_934532.1:n.376-85_376-64del (SGSH)
NM_000199.4:c.356-85_356-64del (SGSH)	NP_000190.1:n.356-85_356-64del
NM_001352921.1:c.356-85_356-64del (SGSH)	NP_001339850.1:n.356-85_356-64del
NM_001352922.1:c.356-85_356-64del (SGSH)	NP_001339851.1:n.356-85_356-64del
NR_148201.1:n.337-85_337-64del (SGSH)
XM_005257583.4:c.356-85_356-64del (SGSH)	XP_005257640.1:n.356-85_356-64del
XM_017024952.1:c.356-85_356-64del (SGSH)	XP_016880441.1:n.356-85_356-64del
XR_001752585.1:n.376-85_376-64del (SGSH)
XR_001752586.1:n.376-85_376-64del (SGSH)
XR_001752587.1:n.376-85_376-64del (SGSH)
XR_001752588.1:n.376-85_376-64del (SGSH)
XR_001752589.1:n.376-85_376-64del (SGSH)
XR_001752590.1:n.376-85_376-64del (SGSH)
XR_001752591.1:n.376-85_376-64del (SGSH)
XR_001752592.1:n.376-85_376-64del (SGSH)
XR_002958057.1:n.376-85_376-64del (SGSH)
XR_934532.2:n.376-85_376-64del (SGSH)
NM_000199.5:c.356-85_356-64del (SGSH) MANE Select	NP_000190.1:n.356-85_356-64del
NM_001352921.2:c.356-85_356-64del (SGSH)	NP_001339850.1:n.356-85_356-64del
NM_001352922.2:c.356-85_356-64del (SGSH)	NP_001339851.1:n.356-85_356-64del
NR_148201.2:n.270-85_270-64del (SGSH)
NM_001352921.3:c.356-85_356-64del (SGSH)	NP_001339850.1:n.356-85_356-64del