Canonical Allele Identifier: CA312396146

Gene: SEC23B

Linked Data

• dbSNP Id: rs1022714607
• gnomAD v2: 20-18506735-GCCCCTCAA-G
• gnomAD v3: 20-18526091-GCCCCTCAA-G
• gnomAD v4: 20-18526091-GCCCCTCAA-G
• MyVariant Identifiers: chr20:g.18506736_18506743del (hg19) ; chr20:g.18526092_18526099del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.18526093_18526100del , CM000682.2:g.18526093_18526100del	GRCh38
NC_000020.10:g.18506737_18506744del , CM000682.1:g.18506737_18506744del	GRCh37
NC_000020.9:g.18454737_18454744del	NCBI36
NG_016281.1:g.23550_23557del
NG_016281.2:g.23612_23619del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336714.8:c.834+161_834+168del	ENSP00000338844.3:n.834+161_834+168del
ENST00000377465.6:c.834+161_834+168del	ENSP00000366685.1:n.834+161_834+168del
ENST00000450074.6:c.834+161_834+168del	ENSP00000403971.1:n.834+161_834+168del
ENST00000643747.1:c.780+161_780+168del	ENSP00000496460.1:n.780+161_780+168del
ENST00000650089.1:c.834+161_834+168del MANE Select	ENSP00000497473.1:n.834+161_834+168del
ENST00000262544.6:c.834+161_834+168del	ENSP00000262544.2:n.834+161_834+168del
ENST00000336714.7:c.834+161_834+168del	ENSP00000338844.3:n.834+161_834+168del
ENST00000377465.5:c.834+161_834+168del	ENSP00000366685.1:n.834+161_834+168del
ENST00000377475.7:c.834+161_834+168del	ENSP00000366695.3:n.834+161_834+168del
ENST00000450074.5:c.834+161_834+168del	ENSP00000403971.1:n.834+161_834+168del
NM_001172745.1:c.834+161_834+168del	NP_001166216.1:n.834+161_834+168del
NM_001172746.1:c.780+161_780+168del	NP_001166217.1:n.780+161_780+168del
NM_006363.4:c.834+161_834+168del	NP_006354.2:n.834+161_834+168del
NM_032985.4:c.834+161_834+168del	NP_116780.1:n.834+161_834+168del
NM_032986.3:c.834+161_834+168del	NP_116781.1:n.834+161_834+168del
NM_001172745.2:c.834+161_834+168del	NP_001166216.1:n.834+161_834+168del
NM_001172746.2:c.780+161_780+168del	NP_001166217.1:n.780+161_780+168del
NM_006363.6:c.834+161_834+168del MANE Select	NP_006354.2:n.834+161_834+168del
NM_032985.5:c.834+161_834+168del	NP_116780.1:n.834+161_834+168del
NM_032986.4:c.834+161_834+168del	NP_116781.1:n.834+161_834+168del
XM_017027593.1:c.834+161_834+168del	XP_016883082.1:n.834+161_834+168del
NM_001172745.3:c.834+161_834+168del	NP_001166216.1:n.834+161_834+168del
NM_001172746.3:c.780+161_780+168del	NP_001166217.1:n.780+161_780+168del
NM_032985.6:c.834+161_834+168del	NP_116780.1:n.834+161_834+168del
NM_032986.5:c.834+161_834+168del	NP_116781.1:n.834+161_834+168del