Canonical Allele Identifier: CA986724904

Gene: CARD14 SGSH

Linked Data

• dbSNP Id: rs2041827295
• gnomAD v4: 17-80214835-CTCTCGGCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214836_80214845del , CM000679.2:g.80214836_80214845del	GRCh38
NC_000017.10:g.78188635_78188644del , CM000679.1:g.78188635_78188644del	GRCh37
NC_000017.9:g.75803230_75803239del	NCBI36
NG_008229.1:g.10556_10565del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2845-1030_2845-1021del (CARD14)
ENST00000326317.11:c.356-80_356-71del (SGSH) MANE Select	ENSP00000314606.6:n.356-80_356-71del
ENST00000326317.10:c.356-80_356-71del (SGSH)	ENSP00000314606.6:n.356-80_356-71del
ENST00000570427.1:c.356-62_356-53del (SGSH)	ENSP00000459765.1:n.356-62_356-53del
ENST00000570923.1:c.391-80_391-71del (SGSH)	ENSP00000458200.1:n.391-80_391-71del
ENST00000571051.5:n.375+188_375+197del (SGSH)
ENST00000571675.5:n.376-80_376-71del (SGSH)
ENST00000572208.5:n.373+188_373+197del (SGSH)
ENST00000573150.5:c.250-80_250-71del (SGSH)	ENSP00000459280.1:n.250-80_250-71del
ENST00000574505.5:c.301-166_301-157del (SGSH)
ENST00000575282.5:n.365-80_365-71del (SGSH)
ENST00000576707.5:c.95-80_95-71del (SGSH)	ENSP00000461128.1:n.95-80_95-71del
ENST00000576941.5:c.250-517_250-508del (SGSH)	ENSP00000461160.1:n.250-517_250-508del
NM_000199.3:c.356-80_356-71del (SGSH)	NP_000190.1:n.356-80_356-71del
XM_005257582.2:c.356-80_356-71del (SGSH)	XP_005257639.1:n.356-80_356-71del
XM_005257583.3:c.356-80_356-71del (SGSH)	XP_005257640.1:n.356-80_356-71del
XM_011525126.1:c.356-80_356-71del (SGSH)	XP_011523428.1:n.356-80_356-71del
XM_011525127.1:c.356-80_356-71del (SGSH)	XP_011523429.1:n.356-80_356-71del
XR_934532.1:n.376-80_376-71del (SGSH)
NM_000199.4:c.356-80_356-71del (SGSH)	NP_000190.1:n.356-80_356-71del
NM_001352921.1:c.356-80_356-71del (SGSH)	NP_001339850.1:n.356-80_356-71del
NM_001352922.1:c.356-80_356-71del (SGSH)	NP_001339851.1:n.356-80_356-71del
NR_148201.1:n.337-80_337-71del (SGSH)
XM_005257583.4:c.356-80_356-71del (SGSH)	XP_005257640.1:n.356-80_356-71del
XM_017024952.1:c.356-80_356-71del (SGSH)	XP_016880441.1:n.356-80_356-71del
XR_001752585.1:n.376-80_376-71del (SGSH)
XR_001752586.1:n.376-80_376-71del (SGSH)
XR_001752587.1:n.376-80_376-71del (SGSH)
XR_001752588.1:n.376-80_376-71del (SGSH)
XR_001752589.1:n.376-80_376-71del (SGSH)
XR_001752590.1:n.376-80_376-71del (SGSH)
XR_001752591.1:n.376-80_376-71del (SGSH)
XR_001752592.1:n.376-80_376-71del (SGSH)
XR_002958057.1:n.376-80_376-71del (SGSH)
XR_934532.2:n.376-80_376-71del (SGSH)
NM_000199.5:c.356-80_356-71del (SGSH) MANE Select	NP_000190.1:n.356-80_356-71del
NM_001352921.2:c.356-80_356-71del (SGSH)	NP_001339850.1:n.356-80_356-71del
NM_001352922.2:c.356-80_356-71del (SGSH)	NP_001339851.1:n.356-80_356-71del
NR_148201.2:n.270-80_270-71del (SGSH)
NM_001352921.3:c.356-80_356-71del (SGSH)	NP_001339850.1:n.356-80_356-71del