Canonical Allele Identifier: CA050792

Gene: FBN1

Linked Data

• dbSNP Id: rs761406400
• ExAC: 15:48779429 AACAT / A
• gnomAD v2: 15-48779429-AACAT-A
• gnomAD v4: 15-48487232-AACAT-A
• MyVariant Identifiers: chr15:g.48779430_48779433del (hg19) ; chr15:g.48487233_48487236del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48487234_48487237del , CM000677.2:g.48487234_48487237del	GRCh38
NC_000015.9:g.48779431_48779434del , CM000677.1:g.48779431_48779434del	GRCh37
NC_000015.8:g.46566723_46566726del	NCBI36
NG_008805.2:g.163553_163556del , LRG_778:g.163553_163556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.3464-36_3464-33del	ENSP00000453958.2:n.3464-36_3464-33del
ENST00000674301.2:c.3464-36_3464-33del	ENSP00000501333.2:n.3464-36_3464-33del
ENST00000684448.1:n.2138-36_2138-33del
ENST00000316623.10:c.3464-36_3464-33del MANE Select	ENSP00000325527.5:n.3464-36_3464-33del
ENST00000316623.9:c.3464-36_3464-33del	ENSP00000325527.5:n.3464-36_3464-33del
ENST00000537463.6:c.637-12586_637-12583del	ENSP00000440294.2:n.637-12586_637-12583del
NM_000138.4:c.3464-36_3464-33del , LRG_778t1:c.3464-36_3464-33del	NP_000129.3:n.3464-36_3464-33del
NM_000138.5:c.3464-36_3464-33del MANE Select	NP_000129.3:n.3464-36_3464-33del