Canonical Allele Identifier: CA2277862087

Gene: CARD14 SGSH

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210312_80210316delinsCAGGA , CM000679.2:g.80210312_80210316delinsCAGGA	GRCh38
NC_000017.10:g.78184111_78184115delinsCAGGA , CM000679.1:g.78184111_78184115delinsCAGGA	GRCh37
NC_000017.9:g.75798706_75798710delinsCAGGA	NCBI36
NG_008229.1:g.15085_15089delinsTCCTG
NG_032778.1:g.45321_45325delinsCAGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+1054_2844+1058delinsCAGGA (CARD14)
ENST00000326317.11:c.*136_*140delinsTCCTG (SGSH) MANE Select	ENSP00000314606.6:n.*136_*140delinsTCCTG
ENST00000326317.10:c.*136_*140delinsTCCTG (SGSH)	ENSP00000314606.6:n.*136_*140delinsTCCTG
ENST00000572257.5:c.551+1755_551+1759delinsTCCTG (SGSH)
ENST00000573150.5:c.*855_*859delinsTCCTG (SGSH)	ENSP00000459280.1:n.*855_*859delinsTCCTG
ENST00000575282.5:n.4528_4532delinsTCCTG (SGSH)
NM_000199.3:c.*136_*140delinsTCCTG (SGSH)	NP_000190.1:n.*136_*140delinsTCCTG
XM_005257583.3:c.949+1755_949+1759delinsTCCTG (SGSH)	XP_005257640.1:n.949+1755_949+1759delinsTCCTG
NM_000199.4:c.*136_*140delinsTCCTG (SGSH)	NP_000190.1:n.*136_*140delinsTCCTG
NM_001352921.1:c.*732_*736delinsTCCTG (SGSH)	NP_001339850.1:n.*732_*736delinsTCCTG
NM_001352922.1:c.*695_*699delinsTCCTG (SGSH)	NP_001339851.1:n.*695_*699delinsTCCTG
NR_148201.1:n.1626_1630delinsTCCTG (SGSH)
XM_005257583.4:c.949+1755_949+1759delinsTCCTG (SGSH)	XP_005257640.1:n.949+1755_949+1759delinsTCCTG
XM_017024952.1:c.*1549_*1553delinsTCCTG (SGSH)	XP_016880441.1:n.*1549_*1553delinsTCCTG
XR_001752585.1:n.1665_1669delinsTCCTG (SGSH)
XR_001752586.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752587.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752588.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752589.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752590.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752591.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_001752592.1:n.969+1755_969+1759delinsTCCTG (SGSH)
XR_002958057.1:n.1024+1553_1024+1557delinsTCCTG (SGSH)
NM_000199.5:c.*136_*140delinsTCCTG (SGSH) MANE Select	NP_000190.1:n.*136_*140delinsTCCTG
NM_001352921.2:c.*732_*736delinsTCCTG (SGSH)	NP_001339850.1:n.*732_*736delinsTCCTG
NM_001352922.2:c.*695_*699delinsTCCTG (SGSH)	NP_001339851.1:n.*695_*699delinsTCCTG
NR_148201.2:n.1559_1563delinsTCCTG (SGSH)
NM_001352921.3:c.*732_*736delinsTCCTG (SGSH)	NP_001339850.1:n.*732_*736delinsTCCTG