Canonical Allele Identifier: CA2640319901

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80214590-AAGGGGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80214597_80214602del , CM000679.2:g.80214597_80214602del	GRCh38
NC_000017.10:g.78188396_78188401del , CM000679.1:g.78188396_78188401del	GRCh37
NC_000017.9:g.75802991_75802996del	NCBI36
NG_008229.1:g.10805_10810del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703570.1:n.2845-1269_2845-1264del (CARD14)
ENST00000326317.11:c.506+19_506+24del (SGSH) MANE Select	ENSP00000314606.6:n.506+19_506+24del
ENST00000326317.10:c.506+19_506+24del (SGSH)	ENSP00000314606.6:n.506+19_506+24del
ENST00000570427.1:c.524+19_524+24del (SGSH)	ENSP00000459765.1:n.524+19_524+24del
ENST00000570923.1:c.541+19_541+24del (SGSH)	ENSP00000458200.1:n.541+19_541+24del
ENST00000571051.5:n.376-268_376-263del (SGSH)
ENST00000571675.5:n.545_550del (SGSH)
ENST00000572208.5:n.374-268_374-263del (SGSH)
ENST00000572257.5:c.108+19_108+24del (SGSH)
ENST00000573150.5:c.400+19_400+24del (SGSH)	ENSP00000459280.1:n.400+19_400+24del
ENST00000574505.5:c.365+19_365+24del (SGSH)
ENST00000575282.5:n.515+19_515+24del (SGSH)
ENST00000576707.5:c.245+19_245+24del (SGSH)	ENSP00000461128.1:n.245+19_245+24del
ENST00000576941.5:c.250-268_250-263del (SGSH)	ENSP00000461160.1:n.250-268_250-263del
NM_000199.3:c.506+19_506+24del (SGSH)	NP_000190.1:n.506+19_506+24del
XM_005257582.2:c.506+19_506+24del (SGSH)	XP_005257639.1:n.506+19_506+24del
XM_005257583.3:c.506+19_506+24del (SGSH)	XP_005257640.1:n.506+19_506+24del
XM_011525126.1:c.506+19_506+24del (SGSH)	XP_011523428.1:n.506+19_506+24del
XM_011525127.1:c.506+19_506+24del (SGSH)	XP_011523429.1:n.506+19_506+24del
XR_934532.1:n.526+19_526+24del (SGSH)
NM_000199.4:c.506+19_506+24del (SGSH)	NP_000190.1:n.506+19_506+24del
NM_001352921.1:c.506+19_506+24del (SGSH)	NP_001339850.1:n.506+19_506+24del
NM_001352922.1:c.506+19_506+24del (SGSH)	NP_001339851.1:n.506+19_506+24del
NR_148201.1:n.487+19_487+24del (SGSH)
XM_005257583.4:c.506+19_506+24del (SGSH)	XP_005257640.1:n.506+19_506+24del
XM_017024952.1:c.506+19_506+24del (SGSH)	XP_016880441.1:n.506+19_506+24del
XR_001752585.1:n.526+19_526+24del (SGSH)
XR_001752586.1:n.526+19_526+24del (SGSH)
XR_001752587.1:n.526+19_526+24del (SGSH)
XR_001752588.1:n.526+19_526+24del (SGSH)
XR_001752589.1:n.526+19_526+24del (SGSH)
XR_001752590.1:n.526+19_526+24del (SGSH)
XR_001752591.1:n.526+19_526+24del (SGSH)
XR_001752592.1:n.526+19_526+24del (SGSH)
XR_002958057.1:n.526+19_526+24del (SGSH)
XR_934532.2:n.526+19_526+24del (SGSH)
NM_000199.5:c.506+19_506+24del (SGSH) MANE Select	NP_000190.1:n.506+19_506+24del
NM_001352921.2:c.506+19_506+24del (SGSH)	NP_001339850.1:n.506+19_506+24del
NM_001352922.2:c.506+19_506+24del (SGSH)	NP_001339851.1:n.506+19_506+24del
NR_148201.2:n.420+19_420+24del (SGSH)
NM_001352921.3:c.506+19_506+24del (SGSH)	NP_001339850.1:n.506+19_506+24del