Canonical Allele Identifier: CA954042745

Linked Data

dbSNP Id: rs1883167385

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23324624_23324625del , CM000675.2:g.23324624_23324625del GRCh38
NC_000013.10:g.23898763_23898764del , CM000675.1:g.23898763_23898764del GRCh37
NC_000013.9:g.22796763_22796764del NCBI36
NG_008759.1:g.148704_148705del , LRG_207:g.148704_148705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-12510_2186-12509del (SACS) ENSP00000508399.1:n.2186-12510_2186-12509del
ENST00000683210.1:c.2185+29160_2185+29161del (SACS) ENSP00000506739.1:n.2185+29160_2185+29161del
ENST00000684325.1:c.2186-2951_2186-2950del (SACS) ENSP00000508121.1:n.2186-2951_2186-2950del
ENST00000684497.1:c.2186-1981_2186-1980del (SACS) ENSP00000507057.1:n.2186-1981_2186-1980del
ENST00000218867.4:c.*83_*84del (SGCG) MANE Select ENSP00000218867.3:n.*83_*84del
ENST00000218867.3:c.*83_*84del (SGCG) ENSP00000218867.3:n.*83_*84del
NM_000231.2:c.*83_*84del , LRG_207t1:c.*83_*84del (SGCG) NP_000222.1:n.*83_*84del
XM_005266505.2:c.*83_*84del (SGCG) XP_005266562.1:n.*83_*84del
XM_006719861.2:c.*83_*84del (SGCG) XP_006719924.1:n.*83_*84del
XM_006719861.3:c.*83_*84del (SGCG) XP_006719924.1:n.*83_*84del
XM_024449397.1:c.*83_*84del (SGCG) XP_024305165.1:n.*83_*84del
NM_000231.3:c.*83_*84del (SGCG) MANE Select NP_000222.2:n.*83_*84del
NM_001378244.1:c.*83_*84del (SGCG) NP_001365173.1:n.*83_*84del
NM_001378245.1:c.*83_*84del (SGCG) NP_001365174.1:n.*83_*84del
NM_001378246.1:c.*83_*84del (SGCG) NP_001365175.1:n.*83_*84del