Canonical Allele Identifier: CA2078621162

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23324416_23324417delinsAC , CM000675.2:g.23324416_23324417delinsAC GRCh38
NC_000013.10:g.23898555_23898556delinsAC , CM000675.1:g.23898555_23898556delinsAC GRCh37
NC_000013.9:g.22796555_22796556delinsAC NCBI36
NG_008759.1:g.148496_148497delinsAC , LRG_207:g.148496_148497delinsAC

Transcript Alleles

HGVS Amino-acid change
ENST00000682775.1:c.2186-12302_2186-12301delinsGT (SACS) ENSP00000508399.1:n.2186-12302_2186-12301...
ENST00000683210.1:c.2185+29368_2185+29369delinsGT (SACS) ENSP00000506739.1:n.2185+29368_2185+29369...
ENST00000684325.1:c.2186-2743_2186-2742delinsGT (SACS) ENSP00000508121.1:n.2186-2743_2186-2742de...
ENST00000684497.1:c.2186-1773_2186-1772delinsGT (SACS) ENSP00000507057.1:n.2186-1773_2186-1772de...
ENST00000218867.4:c.751_752delinsAC (SGCG) MANE Select ENSP00000218867.3:p.Thr251=
ENST00000218867.3:c.751_752delinsAC (SGCG) ENSP00000218867.3:p.Thr251=
NM_000231.2:c.751_752delinsAC , LRG_207t1:c.751_752delinsAC (SGCG) NP_000222.1:p.Thr251=
XM_005266505.2:c.751_752delinsAC (SGCG) XP_005266562.1:p.Thr251=
XM_006719861.2:c.805_806delinsAC (SGCG) XP_006719924.1:p.Thr269=
XM_006719861.3:c.805_806delinsAC (SGCG) XP_006719924.1:p.Thr269=
XM_024449397.1:c.751_752delinsAC (SGCG) XP_024305165.1:p.Thr251=
NM_000231.3:c.751_752delinsAC (SGCG) MANE Select NP_000222.2:p.Thr251=
NM_001378244.1:c.805_806delinsAC (SGCG) NP_001365173.1:p.Thr269=
NM_001378245.1:c.751_752delinsAC (SGCG) NP_001365174.1:p.Thr251=
NM_001378246.1:c.751_752delinsAC (SGCG) NP_001365175.1:p.Thr251=