Canonical Allele Identifier: CA2628331829

Gene: FBN1

Linked Data

• gnomAD v4: 15-48428473-T-TACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48428473_48428474insACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA , CM000677.2:g.48428473_48428474insACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA	GRCh38
NC_000015.9:g.48720670_48720671insACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA , CM000677.1:g.48720670_48720671insACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA	GRCh37
NC_000015.8:g.46507962_46507963insACACAGCCTTCTCCATCAGGTCTCCGCTGATACCCGGGTCCACA	NCBI36
NG_008805.2:g.222315_222316insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT , LRG_778:g.222315_222316insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559133.6:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT	ENSP00000453958.2:n.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGAC...
ENST00000674301.2:c.*323-3_*323-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT	ENSP00000501333.2:n.*323-3_*323-2insTGTGGACCCGGGTATCAGCGGAGAC...
ENST00000682170.1:n.481-3_481-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT
ENST00000682767.1:n.104_105insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT
ENST00000316623.10:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT MANE Select	ENSP00000325527.5:n.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGAC...
ENST00000674301.1:c.1976-3_1976-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT	ENSP00000501333.1:n.1976-3_1976-2insTGTGGACCCGGGTATCAGCGGAGAC...
ENST00000316623.9:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT	ENSP00000325527.5:n.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGAC...
ENST00000559133.5:c.2179-3_2179-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT
ENST00000560720.1:n.159-3_159-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT
NM_000138.4:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT , LRG_778t1:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT	NP_000129.3:n.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATG...
NM_000138.5:c.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATGGAGAAGGCTGTGT MANE Select	NP_000129.3:n.6872-3_6872-2insTGTGGACCCGGGTATCAGCGGAGACCTGATG...