Canonical Allele Identifier: CA207259

Gene: SEPSECS

Linked Data

• ClinVar Variation Id: 212150
• ClinVar RCV Id: RCV000193641 ; RCV001636717 ; RCV001833140
• dbSNP Id: rs34423002
• ExAC: 4:25160732 T / TA
• gnomAD v2: 4-25160732-T-TA
• gnomAD v3: 4-25159110-T-TA
• gnomAD v4: 4-25159110-T-TA
• MyVariant Identifiers: chr4:g.25160733dupA (hg19) ; chr4:g.25160734_25160735insA (hg19) ; chr4:g.25160732_25160733insA (hg19) ; chr4:g.25159111dupA (hg38) ; chr4:g.25159112_25159113insA (hg38) ; chr4:g.25159110_25159111insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25159125dup , CM000666.2:g.25159125dup	GRCh38
NC_000004.11:g.25160747dup , CM000666.1:g.25160747dup	GRCh37
NC_000004.10:g.24769845dup	NCBI36
NG_028222.1:g.6472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382103.7:c.115-4dup MANE Select	ENSP00000371535.2:n.115-4dup
ENST00000680581.1:c.115-4dup	ENSP00000506483.1:n.115-4dup
ENST00000680824.1:n.1327dup
ENST00000681166.1:n.1158dup
ENST00000681341.1:n.1252dup
ENST00000681640.1:n.209-4dup
ENST00000681948.1:c.370-4dup	ENSP00000505991.1:n.370-4dup
ENST00000358971.7:c.252-4dup	ENSP00000351857.3:n.252-4dup
ENST00000382103.6:c.115-4dup	ENSP00000371535.2:n.115-4dup
ENST00000513285.1:c.370-4dup	ENSP00000423361.1:n.370-4dup
ENST00000514585.5:c.114+1145dup	ENSP00000421880.1:n.114+1145dup
NM_016955.3:c.115-4dup	NP_058651.3:n.115-4dup
XM_005248168.2:c.32+1145dup	XP_005248225.1:n.32+1145dup
XM_006713965.2:c.-66-4dup	XP_006714028.1:n.-66-4dup
XM_011513846.1:c.112-4dup	XP_011512148.1:n.112-4dup
XM_011513847.1:c.82-4dup	XP_011512149.1:n.82-4dup
XM_011513848.1:c.-66-4dup	XP_011512150.1:n.-66-4dup
XM_011513846.2:c.112-4dup	XP_011512148.1:n.112-4dup
XM_011513847.2:c.82-4dup	XP_011512149.1:n.82-4dup
XM_017008277.1:c.370-4dup	XP_016863766.1:n.370-4dup
XM_017008278.1:c.-332-4dup	XP_016863767.1:n.-332-4dup
NM_016955.4:c.115-4dup MANE Select	NP_058651.3:n.115-4dup