Canonical Allele Identifier: CA617833909

Gene: FBN1

Linked Data

• dbSNP Id: rs1282799483
• gnomAD v2: 15-48720788-TCTC-T
• gnomAD v3: 15-48428591-TCTC-T
• gnomAD v4: 15-48428591-TCTC-T
• MyVariant Identifiers: chr15:g.48720789_48720791del (hg19) ; chr15:g.48428592_48428594del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428594_48428596del , CM000677.2:g.48428594_48428596del	GRCh38
NC_000015.9:g.48720791_48720793del , CM000677.1:g.48720791_48720793del	GRCh37
NC_000015.8:g.46508083_46508085del	NCBI36
NG_008805.2:g.222195_222197del , LRG_778:g.222195_222197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-123_6872-121del	ENSP00000453958.2:n.6872-123_6872-121del
ENST00000674301.2:c.*323-123_*323-121del	ENSP00000501333.2:n.*323-123_*323-121del
ENST00000682170.1:n.481-123_481-121del
ENST00000316623.10:c.6872-123_6872-121del MANE Select	ENSP00000325527.5:n.6872-123_6872-121del
ENST00000674301.1:c.1976-123_1976-121del	ENSP00000501333.1:n.1976-123_1976-121del
ENST00000316623.9:c.6872-123_6872-121del	ENSP00000325527.5:n.6872-123_6872-121del
ENST00000559133.5:c.2179-123_2179-121del
ENST00000560720.1:n.159-123_159-121del
NM_000138.4:c.6872-123_6872-121del , LRG_778t1:c.6872-123_6872-121del	NP_000129.3:n.6872-123_6872-121del
NM_000138.5:c.6872-123_6872-121del MANE Select	NP_000129.3:n.6872-123_6872-121del