Canonical Allele Identifier: CA056028

Gene: FBN1

Linked Data

• dbSNP Id: rs760286966
• ExAC: 15:48736687 TCCAGTGGACAC / T
• gnomAD v2: 15-48736687-TCCAGTGGACAC-T
• gnomAD v3: 15-48444490-TCCAGTGGACAC-T
• gnomAD v4: 15-48444490-TCCAGTGGACAC-T
• MyVariant Identifiers: chr15:g.48736688_48736698del (hg19) ; chr15:g.48444491_48444501del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48444493_48444503del , CM000677.2:g.48444493_48444503del	GRCh38
NC_000015.9:g.48736690_48736700del , CM000677.1:g.48736690_48736700del	GRCh37
NC_000015.8:g.46523982_46523992del	NCBI36
NG_008805.2:g.206288_206298del , LRG_778:g.206288_206298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6037+40_6037+50del	ENSP00000453958.2:n.6037+40_6037+50del
ENST00000674301.2:c.6037+40_6037+50del	ENSP00000501333.2:n.6037+40_6037+50del
ENST00000684448.1:n.4751_4761del
ENST00000316623.10:c.6037+40_6037+50del MANE Select	ENSP00000325527.5:n.6037+40_6037+50del
ENST00000674301.1:c.1036+40_1036+50del	ENSP00000501333.1:n.1036+40_1036+50del
ENST00000316623.9:c.6037+40_6037+50del	ENSP00000325527.5:n.6037+40_6037+50del
ENST00000537463.6:c.*1800+40_*1800+50del	ENSP00000440294.2:n.*1800+40_*1800+50del
ENST00000559133.5:c.1344+40_1344+50del
ENST00000560820.1:n.157+40_157+50del
NM_000138.4:c.6037+40_6037+50del , LRG_778t1:c.6037+40_6037+50del	NP_000129.3:n.6037+40_6037+50del
NM_000138.5:c.6037+40_6037+50del MANE Select	NP_000129.3:n.6037+40_6037+50del