Canonical Allele Identifier: CA617835921

Gene: FBN1

Linked Data

• dbSNP Id: rs1269337604
• gnomAD v2: 15-48779195-AATAAAATAAC-A
• gnomAD v3: 15-48486998-AATAAAATAAC-A
• gnomAD v4: 15-48486998-AATAAAATAAC-A
• MyVariant Identifiers: chr15:g.48779196_48779205del (hg19) ; chr15:g.48486999_48487008del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487003_48487012del , CM000677.2:g.48487003_48487012del	GRCh38
NC_000015.9:g.48779200_48779209del , CM000677.1:g.48779200_48779209del	GRCh37
NC_000015.8:g.46566492_46566501del	NCBI36
NG_008805.2:g.163781_163790del , LRG_778:g.163781_163790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3589+67_3589+76del	ENSP00000453958.2:n.3589+67_3589+76del
ENST00000674301.2:c.3589+67_3589+76del	ENSP00000501333.2:n.3589+67_3589+76del
ENST00000684448.1:n.2263+67_2263+76del
ENST00000316623.10:c.3589+67_3589+76del MANE Select	ENSP00000325527.5:n.3589+67_3589+76del
ENST00000316623.9:c.3589+67_3589+76del	ENSP00000325527.5:n.3589+67_3589+76del
ENST00000537463.6:c.637-12358_637-12349del	ENSP00000440294.2:n.637-12358_637-12349del
NM_000138.4:c.3589+67_3589+76del , LRG_778t1:c.3589+67_3589+76del	NP_000129.3:n.3589+67_3589+76del
NM_000138.5:c.3589+67_3589+76del MANE Select	NP_000129.3:n.3589+67_3589+76del