Canonical Allele Identifier: CA713403610

Gene: FBN1

Linked Data

• dbSNP Id: rs1224889530
• gnomAD v3: 15-48445188-ATATATATACATATATATATGTG-A
• gnomAD v4: 15-48445188-ATATATATACATATATATATGTG-A
• MyVariant Identifiers: chr15:g.48737386_48737407del (hg19) ; chr15:g.48445189_48445210del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48445198_48445219del , CM000677.2:g.48445198_48445219del	GRCh38
NC_000015.9:g.48737395_48737416del , CM000677.1:g.48737395_48737416del	GRCh37
NC_000015.8:g.46524687_46524708del	NCBI36
NG_008805.2:g.205579_205600del , LRG_778:g.205579_205600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.5917+166_5917+187del	ENSP00000453958.2:n.5917+166_5917+187del
ENST00000674301.2:c.5917+166_5917+187del	ENSP00000501333.2:n.5917+166_5917+187del
ENST00000684448.1:n.4591+166_4591+187del
ENST00000316623.10:c.5917+166_5917+187del MANE Select	ENSP00000325527.5:n.5917+166_5917+187del
ENST00000674301.1:c.916+166_916+187del	ENSP00000501333.1:n.916+166_916+187del
ENST00000316623.9:c.5917+166_5917+187del	ENSP00000325527.5:n.5917+166_5917+187del
ENST00000537463.6:c.*1680+166_*1680+187del	ENSP00000440294.2:n.*1680+166_*1680+187del
ENST00000559133.5:c.1224+166_1224+187del
ENST00000560820.1:n.37+166_37+187del
NM_000138.4:c.5917+166_5917+187del , LRG_778t1:c.5917+166_5917+187del	NP_000129.3:n.5917+166_5917+187del
NM_000138.5:c.5917+166_5917+187del MANE Select	NP_000129.3:n.5917+166_5917+187del