Canonical Allele Identifier: CA1129069725

Gene: SCAI FXNP2

Linked Data

• dbSNP Id: rs1831580595
• gnomAD v3: 9-124968328-A-AAGTCCAGT
• gnomAD v4: 9-124968328-A-AAGTCCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124968329_124968336dup , CM000671.2:g.124968329_124968336dup	GRCh38
NC_000009.11:g.127730608_127730615dup , CM000671.1:g.127730608_127730615dup	GRCh37
NC_000009.10:g.126770429_126770436dup	NCBI36
NG_016620.1:g.180224_180231dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336505.11:c.1674+3034_1674+3041dup (SCAI) MANE Select	ENSP00000336756.6:n.1674+3034_1674+3041dup
ENST00000336505.10:c.1674+3034_1674+3041dup (SCAI)	ENSP00000336756.5:n.1674+3034_1674+3041dup
ENST00000373549.8:c.1743+3034_1743+3041dup (SCAI)	ENSP00000362650.4:n.1743+3034_1743+3041dup
ENST00000411625.2:n.505_512dup (FXNP2)
ENST00000467917.5:c.606+3034_606+3041dup (SCAI)
ENST00000477186.5:c.*119+3034_*119+3041dup (SCAI)	ENSP00000419576.1:n.*119+3034_*119+3041dup
NM_001144877.2:c.1674+3034_1674+3041dup (SCAI)	NP_001138349.1:n.1674+3034_1674+3041dup
NM_173690.4:c.1743+3034_1743+3041dup (SCAI)	NP_775961.2:n.1743+3034_1743+3041dup
XR_929767.1:n.1945+3034_1945+3041dup (SCAI)
NM_001144877.3:c.1674+3034_1674+3041dup (SCAI) MANE Select	NP_001138349.1:n.1674+3034_1674+3041dup
NM_173690.5:c.1743+3034_1743+3041dup (SCAI)	NP_775961.2:n.1743+3034_1743+3041dup