Canonical Allele Identifier: CA123507852
Community Standard Title: NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
Gene: CAST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.96662662_96662663insAGCAGGTGGCTGCAGGTGGC , CM000667.2:g.96662662_96662663insAGCAGGTGGCTGCAGGTGGC GRCh38
NC_000005.9:g.95998366_95998367insAGCAGGTGGCTGCAGGTGGC , CM000667.1:g.95998366_95998367insAGCAGGTGGCTGCAGGTGGC GRCh37
NC_000005.8:g.96024122_96024123insAGCAGGTGGCTGCAGGTGGC NCBI36
NG_029490.1:g.5626_5627insAGCAGGTGGCTGCAGGTGGC
NG_029490.2:g.5626_5627insAGCAGGTGGCTGCAGGTGGC

Transcript Alleles

HGVS Amino-acid Change
NM_001750.7:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC MANE Select NP_001741.4:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000675179.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC MANE Select ENSP00000501872.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042440.3:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035905.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042440.4:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035905.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042440.5:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035905.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042441.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035906.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042441.3:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035906.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042442.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035907.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001042442.3:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001035907.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001190442.1:c.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC NP_001177371.1:n.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC
NM_001190442.2:c.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC NP_001177371.1:n.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC
NM_001330626.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001317555.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001330626.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001317555.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001330627.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001317556.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001330627.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001317556.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
NM_001750.6:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC NP_001741.4:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000338252.7:c.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC ENSP00000343421.3:n.-175+497_-175+498insAGCAGGTGGCTGCAGGTGGC
ENST00000395812.6:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000379157.2:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000421689.6:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000396558.2:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000505143.5:c.61-12877_61-12876insAGCAGGTGGCTGCAGGTGGC ENSP00000422957.1:n.61-12877_61-12876insAGCAGGTGGCTGCAGGTGGC
ENST00000507487.5:n.95+165_95+166insAGCAGGTGGCTGCAGGTGGC
ENST00000507836.1:n.70+165_70+166insAGCAGGTGGCTGCAGGTGGC
ENST00000508830.5:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000425721.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000510756.5:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000422176.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000511097.6:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000422951.2:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000512620.5:c.23+165_23+166insAGCAGGTGGCTGCAGGTGGC
ENST00000515160.5:n.95+165_95+166insAGCAGGTGGCTGCAGGTGGC
ENST00000674702.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000502345.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000674984.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC ENSP00000501713.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
ENST00000675107.1:n.111+497_111+498insAGCAGGTGGCTGCAGGTGGC
XM_006714696.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714759.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714697.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714760.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714698.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714761.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714700.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714763.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714701.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714764.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714703.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714766.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_006714705.2:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_006714768.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_011543654.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_011541956.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_011543655.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_011541957.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_011543656.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_011541958.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC
XM_011543659.1:c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC XP_011541961.1:n.75+165_75+166insAGCAGGTGGCTGCAGGTGGC