Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80210179_80210180delinsTG , CM000679.2:g.80210179_80210180delinsTG	GRCh38
NC_000017.10:g.78183978_78183979delinsTG , CM000679.1:g.78183978_78183979delinsTG	GRCh37
NC_000017.9:g.75798573_75798574delinsTG	NCBI36
NG_008229.1:g.15221_15222delinsCA
NG_032778.1:g.45188_45189delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+921_2844+922delinsTG (CARD14)
ENST00000326317.11:c.272_273delinsCA (SGSH) MANE Select	ENSP00000314606.6:n.272_273delinsCA
ENST00000326317.10:c.272_273delinsCA (SGSH)	ENSP00000314606.6:n.272_273delinsCA
ENST00000572257.5:c.551+1891_551+1892delinsCA (SGSH)
ENST00000573150.5:c.991_992delinsCA (SGSH)	ENSP00000459280.1:n.991_992delinsCA
ENST00000575282.5:n.4664_4665delinsCA (SGSH)
NM_000199.3:c.272_273delinsCA (SGSH)	NP_000190.1:n.272_273delinsCA
XM_005257583.3:c.949+1891_949+1892delinsCA (SGSH)	XP_005257640.1:n.949+1891_949+1892delinsCA
NM_000199.4:c.272_273delinsCA (SGSH)	NP_000190.1:n.272_273delinsCA
NM_001352921.1:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA
NM_001352922.1:c.831_832delinsCA (SGSH)	NP_001339851.1:n.831_832delinsCA
NR_148201.1:n.1762_1763delinsCA (SGSH)
XM_005257583.4:c.949+1891_949+1892delinsCA (SGSH)	XP_005257640.1:n.949+1891_949+1892delinsCA
XM_017024952.1:c.1685_1686delinsCA (SGSH)	XP_016880441.1:n.1685_1686delinsCA
XR_001752585.1:n.1801_1802delinsCA (SGSH)
XR_001752586.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752587.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752588.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752589.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752590.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752591.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752592.1:n.969+1891_969+1892delinsCA (SGSH)
XR_002958057.1:n.1024+1689_1024+1690delinsCA (SGSH)
NM_000199.5:c.272_273delinsCA (SGSH) MANE Select	NP_000190.1:n.272_273delinsCA
NM_001352921.2:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA
NM_001352922.2:c.831_832delinsCA (SGSH)	NP_001339851.1:n.831_832delinsCA
NR_148201.2:n.1695_1696delinsCA (SGSH)
NM_001352921.3:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA

HGVS	Amino-acid Change
ENST00000703570.1:n.2844+921_2844+922delinsTG (CARD14)
ENST00000326317.11:c.272_273delinsCA (SGSH) MANE Select	ENSP00000314606.6:n.272_273delinsCA
ENST00000326317.10:c.272_273delinsCA (SGSH)	ENSP00000314606.6:n.272_273delinsCA
ENST00000572257.5:c.551+1891_551+1892delinsCA (SGSH)
ENST00000573150.5:c.991_992delinsCA (SGSH)	ENSP00000459280.1:n.991_992delinsCA
ENST00000575282.5:n.4664_4665delinsCA (SGSH)
NM_000199.3:c.272_273delinsCA (SGSH)	NP_000190.1:n.272_273delinsCA
XM_005257583.3:c.949+1891_949+1892delinsCA (SGSH)	XP_005257640.1:n.949+1891_949+1892delinsCA
NM_000199.4:c.272_273delinsCA (SGSH)	NP_000190.1:n.272_273delinsCA
NM_001352921.1:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA
NM_001352922.1:c.831_832delinsCA (SGSH)	NP_001339851.1:n.831_832delinsCA
NR_148201.1:n.1762_1763delinsCA (SGSH)
XM_005257583.4:c.949+1891_949+1892delinsCA (SGSH)	XP_005257640.1:n.949+1891_949+1892delinsCA
XM_017024952.1:c.1685_1686delinsCA (SGSH)	XP_016880441.1:n.1685_1686delinsCA
XR_001752585.1:n.1801_1802delinsCA (SGSH)
XR_001752586.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752587.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752588.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752589.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752590.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752591.1:n.969+1891_969+1892delinsCA (SGSH)
XR_001752592.1:n.969+1891_969+1892delinsCA (SGSH)
XR_002958057.1:n.1024+1689_1024+1690delinsCA (SGSH)
NM_000199.5:c.272_273delinsCA (SGSH) MANE Select	NP_000190.1:n.272_273delinsCA
NM_001352921.2:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA
NM_001352922.2:c.831_832delinsCA (SGSH)	NP_001339851.1:n.831_832delinsCA
NR_148201.2:n.1695_1696delinsCA (SGSH)
NM_001352921.3:c.868_869delinsCA (SGSH)	NP_001339850.1:n.868_869delinsCA