Canonical Allele Identifier: CA017338

Gene: FBN1

Linked Data

• ClinVar Variation Id: 42431
• ClinVar RCV Id: RCV000035276
• dbSNP Id: rs397515856
• MyVariant Identifiers: chr15:g.48713750del (hg19) ; chr15:g.48421553del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421555del , CM000677.2:g.48421555del	GRCh38
NC_000015.9:g.48713752del , CM000677.1:g.48713752del	GRCh37
NC_000015.8:g.46501044del	NCBI36
NG_008805.2:g.229236del , LRG_778:g.229236del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+5del	ENSP00000453958.2:n.*507+5del
ENST00000674301.2:c.*1212+5del	ENSP00000501333.2:n.*1212+5del
ENST00000682170.1:n.1880+5del
ENST00000682767.1:n.996+5del
ENST00000316623.10:c.7699+5del MANE Select	ENSP00000325527.5:n.7699+5del
ENST00000674301.1:c.2865+5del	ENSP00000501333.1:n.2865+5del
ENST00000316623.9:c.7699+5del	ENSP00000325527.5:n.7699+5del
ENST00000559133.5:c.3068+5del
NM_000138.4:c.7699+5del , LRG_778t1:c.7699+5del	NP_000129.3:n.7699+5del
NM_000138.5:c.7699+5del MANE Select	NP_000129.3:n.7699+5del