Canonical Allele Identifier: CA2549217687

Gene: SEC23B

Linked Data

• gnomAD v4: 20-18543244-AATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18543253_18543255del , CM000682.2:g.18543253_18543255del	GRCh38
NC_000020.10:g.18523897_18523899del , CM000682.1:g.18523897_18523899del	GRCh37
NC_000020.9:g.18471897_18471899del	NCBI36
NG_016281.1:g.40710_40712del
NG_016281.2:g.40772_40774del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.1665+81_1665+83del	ENSP00000338844.3:n.1665+81_1665+83del
ENST00000377465.6:c.1665+81_1665+83del	ENSP00000366685.1:n.1665+81_1665+83del
ENST00000643747.1:c.1611+81_1611+83del	ENSP00000496460.1:n.1611+81_1611+83del
ENST00000650089.1:c.1665+81_1665+83del MANE Select	ENSP00000497473.1:n.1665+81_1665+83del
ENST00000262544.6:c.1665+81_1665+83del	ENSP00000262544.2:n.1665+81_1665+83del
ENST00000336714.7:c.1665+81_1665+83del	ENSP00000338844.3:n.1665+81_1665+83del
ENST00000377465.5:c.1665+81_1665+83del	ENSP00000366685.1:n.1665+81_1665+83del
ENST00000377475.7:c.1665+81_1665+83del	ENSP00000366695.3:n.1665+81_1665+83del
ENST00000422877.1:c.189+81_189+83del	ENSP00000409882.1:n.189+81_189+83del
NM_001172745.1:c.1665+81_1665+83del	NP_001166216.1:n.1665+81_1665+83del
NM_001172746.1:c.1611+81_1611+83del	NP_001166217.1:n.1611+81_1611+83del
NM_006363.4:c.1665+81_1665+83del	NP_006354.2:n.1665+81_1665+83del
NM_032985.4:c.1665+81_1665+83del	NP_116780.1:n.1665+81_1665+83del
NM_032986.3:c.1665+81_1665+83del	NP_116781.1:n.1665+81_1665+83del
NM_001172745.2:c.1665+81_1665+83del	NP_001166216.1:n.1665+81_1665+83del
NM_001172746.2:c.1611+81_1611+83del	NP_001166217.1:n.1611+81_1611+83del
NM_006363.6:c.1665+81_1665+83del MANE Select	NP_006354.2:n.1665+81_1665+83del
NM_032985.5:c.1665+81_1665+83del	NP_116780.1:n.1665+81_1665+83del
NM_032986.4:c.1665+81_1665+83del	NP_116781.1:n.1665+81_1665+83del
XM_017027593.1:c.1665+81_1665+83del	XP_016883082.1:n.1665+81_1665+83del
NM_001172745.3:c.1665+81_1665+83del	NP_001166216.1:n.1665+81_1665+83del
NM_001172746.3:c.1611+81_1611+83del	NP_001166217.1:n.1611+81_1611+83del
NM_032985.6:c.1665+81_1665+83del	NP_116780.1:n.1665+81_1665+83del
NM_032986.5:c.1665+81_1665+83del	NP_116781.1:n.1665+81_1665+83del