Canonical Allele Identifier: CA2277864290

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80214583_80214584delinsCA , CM000679.2:g.80214583_80214584delinsCA GRCh38
NC_000017.10:g.78188382_78188383delinsCA , CM000679.1:g.78188382_78188383delinsCA GRCh37
NC_000017.9:g.75802977_75802978delinsCA NCBI36
NG_008229.1:g.10817_10818delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000703570.1:n.2845-1283_2845-1282delinsCA (CARD14)
ENST00000326317.11:c.506+31_506+32delinsTG (SGSH) MANE Select ENSP00000314606.6:n.506+31_506+32delinsTG...
ENST00000326317.10:c.506+31_506+32delinsTG (SGSH) ENSP00000314606.6:n.506+31_506+32delinsTG...
ENST00000570427.1:c.524+31_524+32delinsTG (SGSH) ENSP00000459765.1:n.524+31_524+32delinsTG...
ENST00000570923.1:c.541+31_541+32delinsTG (SGSH) ENSP00000458200.1:n.541+31_541+32delinsTG...
ENST00000571051.5:n.376-256_376-255delinsTG (SGSH)
ENST00000571675.5:n.557_558delinsTG (SGSH)
ENST00000572208.5:n.374-256_374-255delinsTG (SGSH)
ENST00000572257.5:c.108+31_108+32delinsTG (SGSH)
ENST00000573150.5:c.400+31_400+32delinsTG (SGSH) ENSP00000459280.1:n.400+31_400+32delinsTG...
ENST00000574505.5:c.365+31_365+32delinsTG (SGSH)
ENST00000575282.5:n.515+31_515+32delinsTG (SGSH)
ENST00000576707.5:c.245+31_245+32delinsTG (SGSH) ENSP00000461128.1:n.245+31_245+32delinsTG...
ENST00000576941.5:c.250-256_250-255delinsTG (SGSH) ENSP00000461160.1:n.250-256_250-255delins...
NM_000199.3:c.506+31_506+32delinsTG (SGSH) NP_000190.1:n.506+31_506+32delinsTG
XM_005257582.2:c.506+31_506+32delinsTG (SGSH) XP_005257639.1:n.506+31_506+32delinsTG
XM_005257583.3:c.506+31_506+32delinsTG (SGSH) XP_005257640.1:n.506+31_506+32delinsTG
XM_011525126.1:c.506+31_506+32delinsTG (SGSH) XP_011523428.1:n.506+31_506+32delinsTG
XM_011525127.1:c.506+31_506+32delinsTG (SGSH) XP_011523429.1:n.506+31_506+32delinsTG
XR_934532.1:n.526+31_526+32delinsTG (SGSH)
NM_000199.4:c.506+31_506+32delinsTG (SGSH) NP_000190.1:n.506+31_506+32delinsTG
NM_001352921.1:c.506+31_506+32delinsTG (SGSH) NP_001339850.1:n.506+31_506+32delinsTG
NM_001352922.1:c.506+31_506+32delinsTG (SGSH) NP_001339851.1:n.506+31_506+32delinsTG
NR_148201.1:n.487+31_487+32delinsTG (SGSH)
XM_005257583.4:c.506+31_506+32delinsTG (SGSH) XP_005257640.1:n.506+31_506+32delinsTG
XM_017024952.1:c.506+31_506+32delinsTG (SGSH) XP_016880441.1:n.506+31_506+32delinsTG
XR_001752585.1:n.526+31_526+32delinsTG (SGSH)
XR_001752586.1:n.526+31_526+32delinsTG (SGSH)
XR_001752587.1:n.526+31_526+32delinsTG (SGSH)
XR_001752588.1:n.526+31_526+32delinsTG (SGSH)
XR_001752589.1:n.526+31_526+32delinsTG (SGSH)
XR_001752590.1:n.526+31_526+32delinsTG (SGSH)
XR_001752591.1:n.526+31_526+32delinsTG (SGSH)
XR_001752592.1:n.526+31_526+32delinsTG (SGSH)
XR_002958057.1:n.526+31_526+32delinsTG (SGSH)
XR_934532.2:n.526+31_526+32delinsTG (SGSH)
NM_000199.5:c.506+31_506+32delinsTG (SGSH) MANE Select NP_000190.1:n.506+31_506+32delinsTG
NM_001352921.2:c.506+31_506+32delinsTG (SGSH) NP_001339850.1:n.506+31_506+32delinsTG
NM_001352922.2:c.506+31_506+32delinsTG (SGSH) NP_001339851.1:n.506+31_506+32delinsTG
NR_148201.2:n.420+31_420+32delinsTG (SGSH)
NM_001352921.3:c.506+31_506+32delinsTG (SGSH) NP_001339850.1:n.506+31_506+32delinsTG