Canonical Allele Identifier: CA7547925

Gene: FBN1

Linked Data

• dbSNP Id: rs772888623
• ExAC: 15:48779675 TCTCCTCCACCAGACCAAGCA / T
• gnomAD v2: 15-48779675-TCTCCTCCACCAGACCAAGCA-T
• gnomAD v3: 15-48487478-TCTCCTCCACCAGACCAAGCA-T
• gnomAD v4: 15-48487478-TCTCCTCCACCAGACCAAGCA-T
• MyVariant Identifiers: chr15:g.48779676_48779695del (hg19) ; chr15:g.48487479_48487498del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487486_48487505del , CM000677.2:g.48487486_48487505del	GRCh38
NC_000015.9:g.48779683_48779702del , CM000677.1:g.48779683_48779702del	GRCh37
NC_000015.8:g.46566975_46566994del	NCBI36
NG_008805.2:g.163291_163310del , LRG_778:g.163291_163310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3338-61_3338-42del	ENSP00000453958.2:n.3338-61_3338-42del
ENST00000674301.2:c.3338-61_3338-42del	ENSP00000501333.2:n.3338-61_3338-42del
ENST00000684448.1:n.2012-61_2012-42del
ENST00000316623.10:c.3338-61_3338-42del MANE Select	ENSP00000325527.5:n.3338-61_3338-42del
ENST00000316623.9:c.3338-61_3338-42del	ENSP00000325527.5:n.3338-61_3338-42del
ENST00000537463.6:c.637-12848_637-12829del	ENSP00000440294.2:n.637-12848_637-12829del
NM_000138.4:c.3338-61_3338-42del , LRG_778t1:c.3338-61_3338-42del	NP_000129.3:n.3338-61_3338-42del
NM_000138.5:c.3338-61_3338-42del MANE Select	NP_000129.3:n.3338-61_3338-42del