Canonical Allele Identifier: CA312414844
Community Standard Title: NM_006363.6(SEC23B):c.2149-130_2149-101del
Gene: SEC23B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.18554978_18555007del , CM000682.2:g.18554978_18555007del GRCh38
NC_000020.10:g.18535622_18535651del , CM000682.1:g.18535622_18535651del GRCh37
NC_000020.9:g.18483622_18483651del NCBI36
NG_016281.1:g.52435_52464del
NG_016281.2:g.52497_52526del

Transcript Alleles

HGVS Amino-acid Change
NM_006363.6:c.2149-130_2149-101del MANE Select NP_006354.2:n.2149-130_2149-101del
ENST00000650089.1:c.2149-130_2149-101del MANE Select ENSP00000497473.1:n.2149-130_2149-101del
NM_001172745.1:c.2149-130_2149-101del NP_001166216.1:n.2149-130_2149-101del
NM_001172745.2:c.2149-130_2149-101del NP_001166216.1:n.2149-130_2149-101del
NM_001172745.3:c.2149-130_2149-101del NP_001166216.1:n.2149-130_2149-101del
NM_001172746.1:c.2095-130_2095-101del NP_001166217.1:n.2095-130_2095-101del
NM_001172746.2:c.2095-130_2095-101del NP_001166217.1:n.2095-130_2095-101del
NM_001172746.3:c.2095-130_2095-101del NP_001166217.1:n.2095-130_2095-101del
NM_006363.4:c.2149-130_2149-101del NP_006354.2:n.2149-130_2149-101del
NM_032985.4:c.2149-130_2149-101del NP_116780.1:n.2149-130_2149-101del
NM_032985.5:c.2149-130_2149-101del NP_116780.1:n.2149-130_2149-101del
NM_032985.6:c.2149-130_2149-101del NP_116780.1:n.2149-130_2149-101del
NM_032986.3:c.2149-130_2149-101del NP_116781.1:n.2149-130_2149-101del
NM_032986.4:c.2149-130_2149-101del NP_116781.1:n.2149-130_2149-101del
NM_032986.5:c.2149-130_2149-101del NP_116781.1:n.2149-130_2149-101del
ENST00000262544.6:c.2149-130_2149-101del ENSP00000262544.2:n.2149-130_2149-101del
ENST00000336714.7:c.2149-130_2149-101del ENSP00000338844.3:n.2149-130_2149-101del
ENST00000336714.8:c.2149-130_2149-101del ENSP00000338844.3:n.2149-130_2149-101del
ENST00000377465.5:c.2149-130_2149-101del ENSP00000366685.1:n.2149-130_2149-101del
ENST00000377465.6:c.2149-130_2149-101del ENSP00000366685.1:n.2149-130_2149-101del
ENST00000377475.7:c.2149-130_2149-101del ENSP00000366695.3:n.2149-130_2149-101del
ENST00000422877.1:c.586-130_586-101del ENSP00000409882.1:n.586-130_586-101del
ENST00000643747.1:c.2095-130_2095-101del ENSP00000496460.1:n.2095-130_2095-101del
XM_017027593.1:c.2149-130_2149-101del XP_016883082.1:n.2149-130_2149-101del