Canonical Allele Identifier: CA6950303

Gene: RFXAP SMAD9

Linked Data

• ClinVar Variation Id: 311793
• ClinVar RCV Id: RCV000375835
• dbSNP Id: rs398022347
• ExAC: 13:37401917 GT / G
• gnomAD v2: 13-37401917-GT-G
• gnomAD v3: 13-36827780-GT-G
• gnomAD v4: 13-36827780-GT-G
• COSMIC: COSN20110606 ; COSN20110607 ; COSN20110608 ; COSN20110609 ; COSN20110610 ; COSN20110611
• MyVariant Identifiers: chr13:g.37401923del (hg19) ; chr13:g.37401918del (hg19) ; chr13:g.36827786del (hg38) ; chr13:g.36827782del (hg38) ; chr13:g.36827781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36827786del , CM000675.2:g.36827786del	GRCh38
NC_000013.10:g.37401923del , CM000675.1:g.37401923del	GRCh37
NC_000013.9:g.36299923del	NCBI36
NG_007876.1:g.13585del , LRG_103:g.13585del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255476.3:c.*33del (RFXAP) MANE Select	ENSP00000255476.3:n.*33del
ENST00000255476.2:c.*33del (RFXAP)	ENSP00000255476.2:n.*33del
ENST00000472888.1:n.217+37del (RFXAP)
NM_000538.3:c.*33del , LRG_103t1:c.*33del (RFXAP)	NP_000529.1:n.*33del
XM_011535096.1:c.1261-11640del (SMAD9)	XP_011533398.1:n.1261-11640del
NM_000538.4:c.*33del (RFXAP) MANE Select	NP_000529.1:n.*33del