Canonical Allele Identifier: CA617832956

Gene: FBN1

Linked Data

• dbSNP Id: rs1457840577
• gnomAD v2: 15-48713731-ATCGCAGCTGAAGT-A
• gnomAD v4: 15-48421534-ATCGCAGCTGAAGT-A
• MyVariant Identifiers: chr15:g.48713732_48713744del (hg19) ; chr15:g.48421535_48421547del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48421535_48421547del , CM000677.2:g.48421535_48421547del	GRCh38
NC_000015.9:g.48713732_48713744del , CM000677.1:g.48713732_48713744del	GRCh37
NC_000015.8:g.46501024_46501036del	NCBI36
NG_008805.2:g.229242_229254del , LRG_778:g.229242_229254del

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.*507+11_*507+23del	ENSP00000453958.2:n.*507+11_*507+23del
ENST00000674301.2:c.*1212+11_*1212+23del	ENSP00000501333.2:n.*1212+11_*1212+23del
ENST00000682170.1:n.1880+11_1880+23del
ENST00000682767.1:n.996+11_996+23del
ENST00000316623.10:c.7699+11_7699+23del MANE Select	ENSP00000325527.5:n.7699+11_7699+23del
ENST00000674301.1:c.2865+11_2865+23del	ENSP00000501333.1:n.2865+11_2865+23del
ENST00000316623.9:c.7699+11_7699+23del	ENSP00000325527.5:n.7699+11_7699+23del
ENST00000559133.5:c.3068+11_3068+23del
NM_000138.4:c.7699+11_7699+23del , LRG_778t1:c.7699+11_7699+23del	NP_000129.3:n.7699+11_7699+23del
NM_000138.5:c.7699+11_7699+23del MANE Select	NP_000129.3:n.7699+11_7699+23del