Canonical Allele Identifier: CA2740091462

Gene: SEC63

Linked Data

• ClinVar Variation Id: 3001825
• ClinVar RCV Id: RCV003862888

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107872872_107872873insCTCAGAAACACAGTATA , CM000668.2:g.107872872_107872873insCTCAGAAACACAGTATA	GRCh38
NC_000006.11:g.108194076_108194077insCTCAGAAACACAGTATA , CM000668.1:g.108194076_108194077insCTCAGAAACACAGTATA	GRCh37
NC_000006.10:g.108300769_108300770insCTCAGAAACACAGTATA	NCBI36
NG_008270.1:g.90406_90407insTATACTGTGTTTCTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369002.9:c.2074_2075insTATACTGTGTTTCTGAG MANE Select	ENSP00000357998.4:p.Tyr692LeufsTer13
ENST00000369002.8:c.2074_2075insTATACTGTGTTTCTGAG	ENSP00000357998.4:p.Tyr692LeufsTer13
ENST00000459782.1:n.877_878insTATACTGTGTTTCTGAG
NM_007214.4:c.2074_2075insTATACTGTGTTTCTGAG	NP_009145.1:p.Tyr692LeufsTer13
XM_011535399.1:c.1906_1907insTATACTGTGTTTCTGAG	XP_011533701.1:p.Tyr636LeufsTer13
XM_017010218.2:c.976_977insTATACTGTGTTTCTGAG	XP_016865707.1:p.Tyr326LeufsTer13
NM_007214.5:c.2074_2075insTATACTGTGTTTCTGAG MANE Select	NP_009145.1:p.Tyr692LeufsTer13