Canonical Allele Identifier: CA2078621616

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23324638_23324639delinsTG , CM000675.2:g.23324638_23324639delinsTG GRCh38
NC_000013.10:g.23898777_23898778delinsTG , CM000675.1:g.23898777_23898778delinsTG GRCh37
NC_000013.9:g.22796777_22796778delinsTG NCBI36
NG_008759.1:g.148718_148719delinsTG , LRG_207:g.148718_148719delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-12524_2186-12523delinsCA (SACS) ENSP00000508399.1:n.2186-12524_2186-12523delinsCA
ENST00000683210.1:c.2185+29146_2185+29147delinsCA (SACS) ENSP00000506739.1:n.2185+29146_2185+29147delinsCA
ENST00000684325.1:c.2186-2965_2186-2964delinsCA (SACS) ENSP00000508121.1:n.2186-2965_2186-2964delinsCA
ENST00000684497.1:c.2186-1995_2186-1994delinsCA (SACS) ENSP00000507057.1:n.2186-1995_2186-1994delinsCA
ENST00000218867.4:c.*97_*98delinsTG (SGCG) MANE Select ENSP00000218867.3:n.*97_*98delinsTG
ENST00000218867.3:c.*97_*98delinsTG (SGCG) ENSP00000218867.3:n.*97_*98delinsTG
NM_000231.2:c.*97_*98delinsTG , LRG_207t1:c.*97_*98delinsTG (SGCG) NP_000222.1:n.*97_*98delinsTG
XM_005266505.2:c.*97_*98delinsTG (SGCG) XP_005266562.1:n.*97_*98delinsTG
XM_006719861.2:c.*97_*98delinsTG (SGCG) XP_006719924.1:n.*97_*98delinsTG
XM_006719861.3:c.*97_*98delinsTG (SGCG) XP_006719924.1:n.*97_*98delinsTG
XM_024449397.1:c.*97_*98delinsTG (SGCG) XP_024305165.1:n.*97_*98delinsTG
NM_000231.3:c.*97_*98delinsTG (SGCG) MANE Select NP_000222.2:n.*97_*98delinsTG
NM_001378244.1:c.*97_*98delinsTG (SGCG) NP_001365173.1:n.*97_*98delinsTG
NM_001378245.1:c.*97_*98delinsTG (SGCG) NP_001365174.1:n.*97_*98delinsTG
NM_001378246.1:c.*97_*98delinsTG (SGCG) NP_001365175.1:n.*97_*98delinsTG